[ { "id": "Q92819-1.162.162", "start_pos": 162, "end_pos": 162, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1399314685", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1399314685", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1399314685", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1399314685", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "KSATYIWKNNFHEKGPGETD", "down_seq": "SHKESSQHVTQLVLSNKSIC", "snv": [ { "evidence": [ { "id": "rs1399314685", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1399314685" }, { "id": "rs1399314685", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1399314685" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121628857", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E162", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121628856", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E162", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.149.149", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.151.151", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.159.159", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.166.166", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.171.171", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.178.178", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.180.180", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.181.181", "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", "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": "Q92819-1.164.164", "start_pos": 164, "end_pos": 164, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs747669733", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747669733", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs747669733", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747669733", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs747669733", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747669733#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs747669733", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747669733", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "ATYIWKNNFHEKGPGETDES", "down_seq": "KESSQHVTQLVLSNKSICIM", "snv": [ { "evidence": [ { "id": "rs747669733", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747669733" }, { "id": "rs747669733", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747669733" }, { "id": "rs747669733", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747669733#frequency_tab" }, { "id": "rs747669733", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747669733" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121628851", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H164", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.149.149", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.151.151", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.159.159", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.166.166", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.171.171", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.178.178", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.180.180", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.184.184", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.166.166", "start_pos": 166, "end_pos": 166, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1195089139", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1195089139", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1195089139", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1195089139", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1812889715", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812889715", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812889715", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1812889715", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "YIWKNNFHEKGPGETDESHK", "down_seq": "SSQHVTQLVLSNKSICIMQK", "snv": [ { "evidence": [ { "id": "rs1195089139", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1195089139" }, { "id": "rs1195089139", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1195089139" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121628843", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E166", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1812889715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812889715" }, { "id": "rs1812889715", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1812889715" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121628844", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E166", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.149.149", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.151.151", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.159.159", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.171.171", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.178.178", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.180.180", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.184.184", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "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": "Q92819-1.170.170", "start_pos": 170, "end_pos": 170, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs555877398", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs555877398", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs555877398", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs555877398", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs555877398", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs555877398", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs555877398", "url": "https://www.ncbi.nlm.nih.gov/snp/rs555877398#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs555877398", "url": "http://gnomad.broadinstitute.org/awesome?query=rs555877398", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "NNFHEKGPGETDESHKESSQ", "down_seq": "VTQLVLSNKSICIMQKWGGK", "snv": [ { "evidence": [ { "id": "rs555877398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs555877398" }, { "id": "rs555877398", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs555877398" }, { "id": "rs555877398", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs555877398" }, { "id": "rs555877398", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs555877398#frequency_tab" }, { "id": "rs555877398", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs555877398" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121628832", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "H170", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.151.151", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.159.159", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.166.166", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.171.171", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.178.178", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.180.180", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.189.189", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.190.190", "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": "Q92819-1.171.171", "start_pos": 171, "end_pos": 171, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs182299352", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs182299352", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs182299352", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs182299352", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs182299352", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs182299352", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs182299352", "url": "https://www.ncbi.nlm.nih.gov/snp/rs182299352#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs182299352", "url": "http://gnomad.broadinstitute.org/awesome?query=rs182299352", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "NFHEKGPGETDESHKESSQH", "down_seq": "TQLVLSNKSICIMQKWGGKR", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "id": "rs182299352", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs182299352" }, { "id": "rs182299352", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs182299352" }, { "id": "rs182299352", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs182299352" }, { "id": "rs182299352", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs182299352#frequency_tab" }, { "id": "rs182299352", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs182299352" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121628830", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V171", "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", "ebi", "germline" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121628830", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "V171", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.151.151", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.159.159", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.166.166", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.178.178", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.180.180", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.189.189", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.190.190", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.191.191", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q92819-1.172.172", "start_pos": 172, "end_pos": 172, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs747190006", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747190006", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs747190006", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747190006", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs747190006", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747190006#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs747190006", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747190006", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "FHEKGPGETDESHKESSQHV", "down_seq": "QLVLSNKSICIMQKWGGKRE", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "id": "rs747190006", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747190006" }, { "id": "rs747190006", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747190006" }, { "id": "rs747190006", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747190006#frequency_tab" }, { "id": "rs747190006", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747190006" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2670", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121628826", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T172", "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": "rs747190006", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747190006" }, { "id": "rs747190006", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747190006" }, { "id": "rs747190006", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747190006#frequency_tab" }, { "id": "rs747190006", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747190006" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121628826", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T172", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q92819-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.159.159", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.166.166", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.171.171", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.178.178", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.180.180", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.189.189", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.190.190", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.191.191", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q92819-1.173.173", "start_pos": 173, "end_pos": 173, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs892400678", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs892400678", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs892400678", "url": "https://www.ensembl.org/id/rs892400678", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "HEKGPGETDESHKESSQHVT", "down_seq": "LVLSNKSICIMQKWGGKREV", "snv": [ { "evidence": [ { "id": "rs892400678", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs892400678" }, { "id": "rs892400678", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs892400678" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121628823", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q173", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.159.159", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.166.166", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.171.171", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.178.178", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.180.180", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.189.189", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.190.190", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.191.191", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.175.175", "start_pos": 175, "end_pos": 175, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "KGPGETDESHKESSQHVTQL", "down_seq": "LSNKSICIMQKWGGKREVMY", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121628817", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "V175", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.159.159", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.166.166", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.171.171", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.178.178", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.180.180", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.189.189", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.190.190", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.191.191", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.194.194", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.178.178", "start_pos": 178, "end_pos": 178, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs939220476", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs939220476", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs939220476", "url": "https://www.ensembl.org/id/rs939220476", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs557486178", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs557486178", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs557486178", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs557486178", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs557486178", "url": "https://www.ncbi.nlm.nih.gov/snp/rs557486178#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs557486178", "url": "http://gnomad.broadinstitute.org/awesome?query=rs557486178", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "GETDESHKESSQHVTQLVLS", "down_seq": "KSICIMQKWGGKREVMYTAF", "snv": [ { "evidence": [ { "id": "rs939220476", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs939220476" }, { "id": "rs939220476", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs939220476" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121628807", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N178", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs557486178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs557486178" }, { "id": "rs557486178", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs557486178" }, { "id": "rs557486178", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs557486178#frequency_tab" }, { "id": "rs557486178", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs557486178" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121628808", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N178", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs557486178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs557486178" }, { "id": "rs557486178", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs557486178" }, { "id": "rs557486178", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs557486178#frequency_tab" }, { "id": "rs557486178", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs557486178" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121628808", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N178", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.159.159", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.166.166", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.171.171", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.180.180", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.189.189", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.190.190", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.191.191", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.197.197", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q92819-1.179.179", "start_pos": 179, "end_pos": 179, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs753739975", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753739975", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs753739975", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753739975", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs753739975", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753739975", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "ETDESHKESSQHVTQLVLSN", "down_seq": "SICIMQKWGGKREVMYTAFR", "snv": [ { "evidence": [ { "id": "rs753739975", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753739975" }, { "id": "rs753739975", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753739975" }, { "id": "rs753739975", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753739975" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121628806", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K179", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.159.159", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.166.166", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.171.171", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.178.178", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.180.180", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.189.189", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.190.190", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.191.191", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.197.197", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.199.199", "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": "Q92819-1.181.181", "start_pos": 181, "end_pos": 181, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1164822954", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1164822954", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1164822954", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1164822954", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "DESHKESSQHVTQLVLSNKS", "down_seq": "CIMQKWGGKREVMYTAFRAL", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121628800", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "I181", "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": "rs1164822954", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1164822954" }, { "id": "rs1164822954", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1164822954" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121628800", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I181", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.166.166", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.171.171", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.178.178", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.180.180", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.189.189", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.190.190", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.191.191", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.197.197", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.200.200", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q92819-1.184.184", "start_pos": 184, "end_pos": 184, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs766156136", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766156136", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs766156136", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766156136", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs766156136", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766156136", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "HKESSQHVTQLVLSNKSICI", "down_seq": "QKWGGKREVMYTAFRALGRS", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121628789", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "M184", "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": "rs766156136", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766156136" }, { "id": "rs766156136", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766156136" }, { "id": "rs766156136", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766156136" } ], "glycoeffect": [], "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121628791", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M184", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.166.166", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.171.171", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.178.178", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.180.180", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.189.189", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.190.190", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.191.191", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.197.197", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.204.204", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "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": "Q92819-1.189.189", "start_pos": 189, "end_pos": 189, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1288780061", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1288780061", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1288780061", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1288780061", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "QHVTQLVLSNKSICIMQKWG", "down_seq": "KREVMYTAFRALGRSVDYVQ", "snv": [ { "evidence": [ { "id": "rs1288780061", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1288780061" }, { "id": "rs1288780061", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1288780061" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121628776", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G189", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.171.171", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.178.178", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.180.180", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.190.190", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.191.191", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.197.197", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.208.208", "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": "Q92819-1.191.191", "start_pos": 191, "end_pos": 191, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1361228894", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1361228894", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1361228894", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1361228894", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VTQLVLSNKSICIMQKWGGK", "down_seq": "EVMYTAFRALGRSVDYVQVC", "snv": [ { "evidence": [ { "id": "rs1361228894", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1361228894" }, { "id": "rs1361228894", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1361228894" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121628770", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R191", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.171.171", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.178.178", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.180.180", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.189.189", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.190.190", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.197.197", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.210.210", "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": "Q92819-1.194.194", "start_pos": 194, "end_pos": 194, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1563622742", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1563622742", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1563622742", "url": "https://www.ensembl.org/id/rs1563622742", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "LVLSNKSICIMQKWGGKREV", "down_seq": "YTAFRALGRSVDYVQVCDSD", "snv": [ { "evidence": [ { "id": "rs1563622742", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1563622742" }, { "id": "rs1563622742", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1563622742" } ], "glycoeffect": [], "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121628760", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M194", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.178.178", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.180.180", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.189.189", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.190.190", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.191.191", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.197.197", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.214.214", "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": "Q92819-1.197.197", "start_pos": 197, "end_pos": 197, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1445545918", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1445545918", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1445545918", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1445545918#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1445545918", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1445545918", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "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": "A", "start_aa": "A", "up_seq": "SNKSICIMQKWGGKREVMYT", "down_seq": "FRALGRSVDYVQVCDSDTML", "snv": [ { "evidence": [ { "id": "rs1445545918", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1445545918" }, { "id": "rs1445545918", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1445545918#frequency_tab" }, { "id": "rs1445545918", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1445545918" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121628751", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A197", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1445545918", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1445545918" }, { "id": "rs1445545918", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1445545918#frequency_tab" }, { "id": "rs1445545918", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1445545918" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121628751", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A197", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121628752", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A197", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "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": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121628751", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A197", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.178.178", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.180.180", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.189.189", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.190.190", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.191.191", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.217.217", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q92819-1.199.199", "start_pos": 199, "end_pos": 199, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs761516386", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761516386", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs761516386", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761516386", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs761516386", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761516386#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs761516386", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761516386", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KSICIMQKWGGKREVMYTAF", "down_seq": "ALGRSVDYVQVCDSDTMLDP", "snv": [ { "evidence": [ { "id": "rs761516386", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761516386" }, { "id": "rs761516386", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761516386" }, { "id": "rs761516386", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761516386#frequency_tab" }, { "id": "rs761516386", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761516386" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121628745", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R199", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761516386", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761516386" }, { "id": "rs761516386", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761516386" }, { "id": "rs761516386", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761516386#frequency_tab" }, { "id": "rs761516386", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761516386" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121628745", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R199", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.180.180", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.189.189", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.190.190", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.191.191", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.197.197", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.218.218", "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": "Q92819-1.19.19", "start_pos": 19, "end_pos": 19, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1280656196", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1280656196", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1280656196", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1280656196", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "MHCERFLCILRIIGTTLF", "down_seq": "VSLLLGITAAYIVGYQFIQT", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "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, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629285", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G19", "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": "rs1280656196", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1280656196" }, { "id": "rs1280656196", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1280656196" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629285", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G19", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q92819-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.39.39", "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": 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": "Q92819-1.200.200", "start_pos": 200, "end_pos": 200, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "SICIMQKWGGKREVMYTAFR", "down_seq": "LGRSVDYVQVCDSDTMLDPA", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121628743", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A200", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.180.180", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.189.189", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.190.190", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.191.191", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.197.197", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.218.218", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.203.203", "start_pos": 203, "end_pos": 203, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs773816788", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773816788", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs773816788", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773816788", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs773816788", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773816788", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs200562324", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200562324", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs200562324", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200562324", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs200562324", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200562324#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs200562324", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200562324", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "IMQKWGGKREVMYTAFRALG", "down_seq": "SVDYVQVCDSDTMLDPASSV", "snv": [ { "evidence": [ { "id": "rs773816788", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773816788" }, { "id": "rs773816788", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773816788" }, { "id": "rs773816788", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773816788" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121628734", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R203", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "id": "rs200562324", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200562324" }, { "id": "rs200562324", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200562324" }, { "id": "rs200562324", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200562324#frequency_tab" }, { "id": "rs200562324", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200562324" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121628733", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R203", "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" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.189.189", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.190.190", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.191.191", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.197.197", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.221.221", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.223.223", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "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": "Q92819-1.204.204", "start_pos": 204, "end_pos": 204, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs746337139", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746337139", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs746337139", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746337139", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs746337139", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746337139#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs746337139", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746337139", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MQKWGGKREVMYTAFRALGR", "down_seq": "VDYVQVCDSDTMLDPASSVE", "snv": [ { "evidence": [ { "id": "rs746337139", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746337139" }, { "id": "rs746337139", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746337139" }, { "id": "rs746337139", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746337139#frequency_tab" }, { "id": "rs746337139", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746337139" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121628730", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S204", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746337139", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746337139" }, { "id": "rs746337139", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746337139" }, { "id": "rs746337139", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746337139#frequency_tab" }, { "id": "rs746337139", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746337139" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121628730", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S204", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.189.189", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.190.190", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.191.191", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.197.197", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.221.221", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.223.223", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.206.206", "start_pos": 206, "end_pos": 206, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1263290524", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1263290524", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1263290524", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1263290524#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1263290524", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1263290524", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "KWGGKREVMYTAFRALGRSV", "down_seq": "YVQVCDSDTMLDPASSVEMV", "snv": [ { "evidence": [ { "id": "rs1263290524", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1263290524" }, { "id": "rs1263290524", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1263290524#frequency_tab" }, { "id": "rs1263290524", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1263290524" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121628725", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D206", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.189.189", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.190.190", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.191.191", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.197.197", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.221.221", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.226.226", "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": "Q92819-1.208.208", "start_pos": 208, "end_pos": 208, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1812887349", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812887349", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812887349", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812887349#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "GGKREVMYTAFRALGRSVDY", "down_seq": "QVCDSDTMLDPASSVEMVKV", "snv": [ { "evidence": [ { "id": "rs1812887349", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812887349" }, { "id": "rs1812887349", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812887349#frequency_tab" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121628719", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V208", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.189.189", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.190.190", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.191.191", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.197.197", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.221.221", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.226.226", "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": "Q92819-1.210.210", "start_pos": 210, "end_pos": 210, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "KREVMYTAFRALGRSVDYVQ", "down_seq": "CDSDTMLDPASSVEMVKVLE", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "5", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121617205", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V210", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121617206", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V210", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.190.190", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.191.191", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.197.197", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.221.221", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.230.230", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_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": "Q92819-1.214.214", "start_pos": 214, "end_pos": 214, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "MYTAFRALGRSVDYVQVCDS", "down_seq": "TMLDPASSVEMVKVLEEDPM", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "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, glycosyltransferase).", "chr_id": "8", "chr_pos": "121617194", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D214", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.197.197", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.221.221", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.234.234", "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": "Q92819-1.216.216", "start_pos": 216, "end_pos": 216, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1812714923", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812714923", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812714923", "url": "https://www.ensembl.org/id/rs1812714923", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs144357112", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144357112", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs144357112", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144357112", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs144357112", "url": "http://gnomad.broadinstitute.org/awesome?query=rs144357112", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "TAFRALGRSVDYVQVCDSDT", "down_seq": "LDPASSVEMVKVLEEDPMVG", "snv": [ { "evidence": [ { "id": "rs1812714923", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812714923" }, { "id": "rs1812714923", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1812714923" } ], "glycoeffect": [], "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121617187", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M216", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs144357112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144357112" }, { "id": "rs144357112", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144357112" }, { "id": "rs144357112", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs144357112" } ], "glycoeffect": [], "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121617188", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M216", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.197.197", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.221.221", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.236.236", "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": 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": "Q92819-1.217.217", "start_pos": 217, "end_pos": 217, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "AFRALGRSVDYVQVCDSDTM", "down_seq": "DPASSVEMVKVLEEDPMVGG", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121617184", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L217", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121617185", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "L217", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.197.197", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.221.221", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.236.236", "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": 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": "Q92819-1.218.218", "start_pos": 218, "end_pos": 218, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "FRALGRSVDYVQVCDSDTML", "down_seq": "PASSVEMVKVLEEDPMVGGV", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121617182", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "D218", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.221.221", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.236.236", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.222.222", "start_pos": 222, "end_pos": 222, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GRSVDYVQVCDSDTMLDPAS", "down_seq": "VEMVKVLEEDPMVGGVGGDV", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121617169", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S222", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.221.221", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.240.240", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.241.241", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.223.223", "start_pos": 223, "end_pos": 223, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs761285779", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761285779", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs761285779", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761285779", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs761285779", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761285779#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs761285779", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761285779", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "RSVDYVQVCDSDTMLDPASS", "down_seq": "EMVKVLEEDPMVGGVGGDVQ", "snv": [ { "evidence": [ { "id": "rs761285779", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761285779" }, { "id": "rs761285779", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761285779" }, { "id": "rs761285779", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761285779#frequency_tab" }, { "id": "rs761285779", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761285779" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121617167", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V223", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.221.221", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.240.240", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.243.243", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.226.226", "start_pos": 226, "end_pos": 226, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs772589615", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772589615", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs772589615", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772589615", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs772589615", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772589615", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs773427224", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773427224", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs773427224", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773427224", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs773427224", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773427224", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "DYVQVCDSDTMLDPASSVEM", "down_seq": "KVLEEDPMVGGVGGDVQILN", "snv": [ { "evidence": [ { "id": "rs772589615", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772589615" }, { "id": "rs772589615", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772589615" }, { "id": "rs772589615", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772589615" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121617157", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V226", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773427224", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773427224" }, { "id": "rs773427224", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773427224" }, { "id": "rs773427224", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773427224" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121617158", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V226", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.221.221", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.240.240", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.244.244", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q92819-1.229.229", "start_pos": 229, "end_pos": 229, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "QVCDSDTMLDPASSVEMVKV", "down_seq": "EEDPMVGGVGGDVQILNKYD", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121617149", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "L229", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.221.221", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.240.240", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.248.248", "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": "Q92819-1.230.230", "start_pos": 230, "end_pos": 230, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "VCDSDTMLDPASSVEMVKVL", "down_seq": "EDPMVGGVGGDVQILNKYDS", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121617146", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E230", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.221.221", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.240.240", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.248.248", "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": "Q92819-1.231.231", "start_pos": 231, "end_pos": 231, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "CDSDTMLDPASSVEMVKVLE", "down_seq": "DPMVGGVGGDVQILNKYDSW", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121617141", "ref_nt": "T", "alt_nt": "G", "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" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q92819-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.221.221", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.240.240", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.251.251", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.232.232", "start_pos": 232, "end_pos": 232, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs748343011", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748343011", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748343011", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748343011", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748343011", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748343011#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs748343011", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748343011", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "DSDTMLDPASSVEMVKVLEE", "down_seq": "PMVGGVGGDVQILNKYDSWI", "snv": [ { "evidence": [ { "id": "rs748343011", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748343011" }, { "id": "rs748343011", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748343011" }, { "id": "rs748343011", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748343011#frequency_tab" }, { "id": "rs748343011", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748343011" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121617140", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D232", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q92819-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.221.221", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.240.240", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.251.251", "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": "Q92819-1.233.233", "start_pos": 233, "end_pos": 233, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs768797213", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768797213", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs768797213", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768797213", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs768797213", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768797213", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs779279789", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779279789", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs779279789", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779279789", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs779279789", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779279789#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs779279789", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779279789", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "SDTMLDPASSVEMVKVLEED", "down_seq": "MVGGVGGDVQILNKYDSWIS", "snv": [ { "evidence": [ { "id": "rs768797213", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768797213" }, { "id": "rs768797213", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768797213" }, { "id": "rs768797213", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768797213" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121617136", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P233", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768797213", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768797213" }, { "id": "rs768797213", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768797213" }, { "id": "rs768797213", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768797213" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121617136", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P233", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779279789", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779279789" }, { "id": "rs779279789", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779279789" }, { "id": "rs779279789", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779279789#frequency_tab" }, { "id": "rs779279789", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779279789" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121617137", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P233", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.221.221", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.240.240", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.253.253", "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": 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": "Q92819-1.234.234", "start_pos": 234, "end_pos": 234, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs569812163", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs569812163", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs569812163", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs569812163", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs569812163", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs569812163", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs569812163", "url": "https://www.ncbi.nlm.nih.gov/snp/rs569812163#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs569812163", "url": "http://gnomad.broadinstitute.org/awesome?query=rs569812163", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "DTMLDPASSVEMVKVLEEDP", "down_seq": "VGGVGGDVQILNKYDSWISF", "snv": [ { "evidence": [ { "id": "rs569812163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs569812163" }, { "id": "rs569812163", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs569812163" }, { "id": "rs569812163", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs569812163" }, { "id": "rs569812163", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs569812163#frequency_tab" }, { "id": "rs569812163", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs569812163" } ], "glycoeffect": [], "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121617133", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "M234", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.221.221", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.240.240", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.253.253", "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": "Q92819-1.235.235", "start_pos": 235, "end_pos": 235, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1812714240", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812714240", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812714240", "url": "https://www.ensembl.org/id/rs1812714240", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "TMLDPASSVEMVKVLEEDPM", "down_seq": "GGVGGDVQILNKYDSWISFL", "snv": [ { "evidence": [ { "id": "rs1812714240", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812714240" }, { "id": "rs1812714240", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1812714240" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121617131", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V235", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.221.221", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.240.240", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.255.255", "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": "Q92819-1.236.236", "start_pos": 236, "end_pos": 236, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1039815827", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1039815827", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1039815827", "url": "https://www.ensembl.org/id/rs1039815827", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "MLDPASSVEMVKVLEEDPMV", "down_seq": "GVGGDVQILNKYDSWISFLS", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121617127", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "G236", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "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, glycosyltransferase).", "chr_id": "8", "chr_pos": "121617127", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G236", "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": "rs1039815827", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1039815827" }, { "id": "rs1039815827", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1039815827" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121617128", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G236", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.221.221", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.240.240", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.255.255", "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": 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": "Q92819-1.239.239", "start_pos": 239, "end_pos": 239, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1812714069", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812714069", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812714069", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1812714069", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs780243360", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780243360", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs780243360", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780243360", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs780243360", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780243360", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "PASSVEMVKVLEEDPMVGGV", "down_seq": "GDVQILNKYDSWISFLSSVR", "snv": [ { "evidence": [ { "id": "rs1812714069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812714069" }, { "id": "rs1812714069", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1812714069" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121617118", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G239", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780243360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780243360" }, { "id": "rs780243360", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780243360" }, { "id": "rs780243360", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780243360" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121617119", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G239", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q92819-1.221.221", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.240.240", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.257.257", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q92819-1.23.23", "start_pos": 23, "end_pos": 23, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "CERFLCILRIIGTTLFGVSL", "down_seq": "LGITAAYIVGYQFIQTDNYY", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629274", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L23", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.43.43", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.240.240", "start_pos": 240, "end_pos": 240, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "ASSVEMVKVLEEDPMVGGVG", "down_seq": "DVQILNKYDSWISFLSSVRY", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121617116", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G240", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.221.221", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.257.257", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.241.241", "start_pos": 241, "end_pos": 241, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs755969071", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755969071", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs755969071", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755969071", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs755969071", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755969071", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SSVEMVKVLEEDPMVGGVGG", "down_seq": "VQILNKYDSWISFLSSVRYW", "snv": [ { "evidence": [ { "id": "rs755969071", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755969071" }, { "id": "rs755969071", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755969071" }, { "id": "rs755969071", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755969071" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121617113", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D241", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.221.221", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.240.240", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.261.261", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.243.243", "start_pos": 243, "end_pos": 243, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "VEMVKVLEEDPMVGGVGGDV", "down_seq": "ILNKYDSWISFLSSVRYWMA", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "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, glycosyltransferase).", "chr_id": "8", "chr_pos": "121617105", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q243", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.240.240", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.262.262", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.244.244", "start_pos": 244, "end_pos": 244, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs76747197", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76747197", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs76747197", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs76747197", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs76747197", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76747197", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs76747197", "url": "http://gnomad.broadinstitute.org/awesome?query=rs76747197", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1812681544", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812681544", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812681544", "url": "https://www.ensembl.org/id/rs1812681544", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "EMVKVLEEDPMVGGVGGDVQ", "down_seq": "LNKYDSWISFLSSVRYWMAF", "snv": [ { "evidence": [ { "id": "rs76747197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76747197" }, { "id": "rs76747197", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs76747197" }, { "id": "rs76747197", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76747197" }, { "id": "rs76747197", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs76747197" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121615038", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "I244", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1812681544", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812681544" }, { "id": "rs1812681544", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1812681544" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121615036", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I244", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q92819-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.240.240", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.262.262", "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": 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": "Q92819-1.248.248", "start_pos": 248, "end_pos": 248, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "VLEEDPMVGGVGGDVQILNK", "down_seq": "DSWISFLSSVRYWMAFNIER", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121615026", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Y248", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.240.240", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.265.265", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.267.267", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.24.24", "start_pos": 24, "end_pos": 24, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1233065882", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1233065882", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1233065882", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1233065882", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "ERFLCILRIIGTTLFGVSLL", "down_seq": "GITAAYIVGYQFIQTDNYYF", "snv": [ { "evidence": [ { "id": "rs1233065882", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1233065882" }, { "id": "rs1233065882", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1233065882" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629271", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L24", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.44.44", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.251.251", "start_pos": 251, "end_pos": 251, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs150056153", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150056153", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "EDPMVGGVGGDVQILNKYDS", "down_seq": "ISFLSSVRYWMAFNIERACQ", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "id": "rs150056153", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150056153" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121615015", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "W251", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121615017", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "W251", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.240.240", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.265.265", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.271.271", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q92819-1.253.253", "start_pos": 253, "end_pos": 253, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PMVGGVGGDVQILNKYDSWI", "down_seq": "FLSSVRYWMAFNIERACQSY", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121615010", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S253", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.240.240", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.265.265", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.272.272", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.255.255", "start_pos": 255, "end_pos": 255, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "VGGVGGDVQILNKYDSWISF", "down_seq": "SSVRYWMAFNIERACQSYFG", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "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, glycosyltransferase).", "chr_id": "8", "chr_pos": "121615005", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L255", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121615005", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L255", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.240.240", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.265.265", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.272.272", "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": 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": "Q92819-1.257.257", "start_pos": 257, "end_pos": 257, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GVGGDVQILNKYDSWISFLS", "down_seq": "VRYWMAFNIERACQSYFGCV", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614997", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S257", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q92819-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.240.240", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.265.265", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.276.276", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.25.25", "start_pos": 25, "end_pos": 25, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "RFLCILRIIGTTLFGVSLLL", "down_seq": "ITAAYIVGYQFIQTDNYYFS", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629268", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G25", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629267", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G25", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.45.45", "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": 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": "Q92819-1.261.261", "start_pos": 261, "end_pos": 261, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1812681252", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812681252", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812681252", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812681252#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs2130430871", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2130430871", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2130430871", "url": "https://www.ensembl.org/id/rs2130430871", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "DVQILNKYDSWISFLSSVRY", "down_seq": "MAFNIERACQSYFGCVQCIS", "snv": [ { "evidence": [ { "id": "rs1812681252", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812681252" }, { "id": "rs1812681252", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812681252#frequency_tab" } ], "glycoeffect": [], "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614985", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W261", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2130430871", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2130430871" }, { "id": "rs2130430871", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2130430871" } ], "glycoeffect": [], "sequence_org": "W", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614986", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W261", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.265.265", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.278.278", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q92819-1.262.262", "start_pos": 262, "end_pos": 262, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "VQILNKYDSWISFLSSVRYW", "down_seq": "AFNIERACQSYFGCVQCISG", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "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, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614982", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "M262", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.265.265", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.278.278", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.265.265", "start_pos": 265, "end_pos": 265, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1350379999", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1350379999", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1350379999", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1350379999", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LNKYDSWISFLSSVRYWMAF", "down_seq": "IERACQSYFGCVQCISGPLG", "snv": [ { "evidence": [ { "id": "rs1350379999", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1350379999" }, { "id": "rs1350379999", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1350379999" } ], "glycoeffect": [], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614974", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N265", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q92819-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.285.285", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.266.266", "start_pos": 266, "end_pos": 266, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1259821096", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1259821096", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1259821096", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1259821096", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "NKYDSWISFLSSVRYWMAFN", "down_seq": "ERACQSYFGCVQCISGPLGM", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "id": "rs1259821096", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1259821096" }, { "id": "rs1259821096", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1259821096" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614970", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "I266", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q92819-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.265.265", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.286.286", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.267.267", "start_pos": 267, "end_pos": 267, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1320669096", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1320669096", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1320669096", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1320669096", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "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": "KYDSWISFLSSVRYWMAFNI", "down_seq": "RACQSYFGCVQCISGPLGMY", "snv": [ { "evidence": [ { "id": "rs1320669096", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1320669096" }, { "id": "rs1320669096", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1320669096" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614968", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E267", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614969", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E267", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614969", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E267", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.265.265", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.286.286", "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": 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": "Q92819-1.271.271", "start_pos": 271, "end_pos": 271, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "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": "Q", "start_aa": "Q", "up_seq": "WISFLSSVRYWMAFNIERAC", "down_seq": "SYFGCVQCISGPLGMYRNSL", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "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": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614957", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q271", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "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": "Q", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614957", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Q271", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.265.265", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.290.290", "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": 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": "Q92819-1.272.272", "start_pos": 272, "end_pos": 272, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ISFLSSVRYWMAFNIERACQ", "down_seq": "YFGCVQCISGPLGMYRNSLL", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614953", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S272", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.265.265", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.290.290", "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": "Q92819-1.276.276", "start_pos": 276, "end_pos": 276, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1812680913", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812680913", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812680913", "url": "https://www.ensembl.org/id/rs1812680913", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "SSVRYWMAFNIERACQSYFG", "down_seq": "VQCISGPLGMYRNSLLHEFV", "snv": [ { "evidence": [ { "id": "rs1812680913", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812680913" }, { "id": "rs1812680913", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1812680913" } ], "glycoeffect": [], "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614941", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C276", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.265.265", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.296.296", "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": "Q92819-1.278.278", "start_pos": 278, "end_pos": 278, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1211505441", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211505441", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1211505441", "url": "https://www.ensembl.org/id/rs1211505441", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "VRYWMAFNIERACQSYFGCV", "down_seq": "CISGPLGMYRNSLLHEFVED", "snv": [ { "evidence": [ { "id": "rs1211505441", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211505441" }, { "id": "rs1211505441", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1211505441" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614935", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q278", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q92819-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.265.265", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.298.298", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.283.283", "start_pos": 283, "end_pos": 283, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "AFNIERACQSYFGCVQCISG", "down_seq": "LGMYRNSLLHEFVEDWYNQE", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614920", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P283", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q92819-1.265.265", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.298.298", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.302.302", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.303.303", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.285.285", "start_pos": 285, "end_pos": 285, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "NIERACQSYFGCVQCISGPL", "down_seq": "MYRNSLLHEFVEDWYNQEFM", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614915", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G285", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.265.265", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.298.298", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.302.302", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.303.303", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.286.286", "start_pos": 286, "end_pos": 286, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1485930529", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1485930529", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1485930529", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1485930529#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "IERACQSYFGCVQCISGPLG", "down_seq": "YRNSLLHEFVEDWYNQEFMG", "snv": [ { "evidence": [ { "id": "rs1485930529", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1485930529" }, { "id": "rs1485930529", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1485930529#frequency_tab" } ], "glycoeffect": [], "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614910", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M286", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.298.298", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.302.302", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.303.303", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.288.288", "start_pos": 288, "end_pos": 288, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RACQSYFGCVQCISGPLGMY", "down_seq": "NSLLHEFVEDWYNQEFMGNQ", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "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, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614905", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R288", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q92819-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.298.298", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.302.302", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.303.303", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.290.290", "start_pos": 290, "end_pos": 290, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "CQSYFGCVQCISGPLGMYRN", "down_seq": "LLHEFVEDWYNQEFMGNQCS", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614900", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S290", "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" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614899", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S290", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.298.298", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.302.302", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.310.310", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q92819-1.295.295", "start_pos": 295, "end_pos": 295, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "GCVQCISGPLGMYRNSLLHE", "down_seq": "VEDWYNQEFMGNQCSFGDDR", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "F", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614883", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "F295", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.298.298", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.302.302", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.315.315", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.296.296", "start_pos": 296, "end_pos": 296, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs759092543", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759092543", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs759092543", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759092543", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs759092543", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759092543", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "CVQCISGPLGMYRNSLLHEF", "down_seq": "EDWYNQEFMGNQCSFGDDRH", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "id": "rs759092543", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759092543" }, { "id": "rs759092543", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759092543" }, { "id": "rs759092543", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759092543" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614882", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V296", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.298.298", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.302.302", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.315.315", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.298.298", "start_pos": 298, "end_pos": 298, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "QCISGPLGMYRNSLLHEFVE", "down_seq": "WYNQEFMGNQCSFGDDRHLT", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614874", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "D298", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614876", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D298", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.302.302", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.318.318", "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": 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": "Q92819-1.299.299", "start_pos": 299, "end_pos": 299, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "CISGPLGMYRNSLLHEFVED", "down_seq": "YNQEFMGNQCSFGDDRHLTN", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614872", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "W299", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q92819-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.298.298", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.302.302", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.319.319", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.29.29", "start_pos": 29, "end_pos": 29, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs767543519", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767543519", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs767543519", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767543519", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs767543519", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767543519#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs767543519", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767543519", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs773442642", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773442642", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs773442642", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773442642", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs773442642", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773442642", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "ILRIIGTTLFGVSLLLGITA", "down_seq": "YIVGYQFIQTDNYYFSFGLY", "snv": [ { "evidence": [ { "id": "rs767543519", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767543519" }, { "id": "rs767543519", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767543519" }, { "id": "rs767543519", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767543519#frequency_tab" }, { "id": "rs767543519", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767543519" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629255", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A29", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773442642", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773442642" }, { "id": "rs773442642", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773442642" }, { "id": "rs773442642", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773442642" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629256", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A29", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.48.48", "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": "Q92819-1.2.2", "start_pos": 2, "end_pos": 2, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1467386643", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1467386643", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1467386643", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1467386643", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "M", "down_seq": "CERFLCILRIIGTTLFGVSL", "snv": [ { "evidence": [ { "id": "rs1467386643", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1467386643" }, { "id": "rs1467386643", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1467386643" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629336", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q92819-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.19.19", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.301.301", "start_pos": 301, "end_pos": 301, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs578147501", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs578147501", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs578147501", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs578147501", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs578147501", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs578147501", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs578147501", "url": "https://www.ncbi.nlm.nih.gov/snp/rs578147501#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs578147501", "url": "http://gnomad.broadinstitute.org/awesome?query=rs578147501", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1812680516", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812680516", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812680516", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812680516#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1812680516", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1812680516", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "SGPLGMYRNSLLHEFVEDWY", "down_seq": "QEFMGNQCSFGDDRHLTNRV", "snv": [ { "evidence": [ { "id": "rs578147501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs578147501" }, { "id": "rs578147501", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs578147501" }, { "id": "rs578147501", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs578147501" }, { "id": "rs578147501", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs578147501#frequency_tab" }, { "id": "rs578147501", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs578147501" } ], "glycoeffect": [], "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614867", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "N301", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs578147501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs578147501" }, { "id": "rs578147501", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs578147501" }, { "id": "rs578147501", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs578147501" }, { "id": "rs578147501", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs578147501#frequency_tab" }, { "id": "rs578147501", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs578147501" } ], "glycoeffect": [], "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614867", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "N301", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1812680516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812680516" }, { "id": "rs1812680516", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812680516#frequency_tab" }, { "id": "rs1812680516", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1812680516" } ], "glycoeffect": [], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614866", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N301", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q92819-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.298.298", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.302.302", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.321.321", "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": 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": "Q92819-1.302.302", "start_pos": 302, "end_pos": 302, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "GPLGMYRNSLLHEFVEDWYN", "down_seq": "EFMGNQCSFGDDRHLTNRVL", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614864", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Q302", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614863", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Q302", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.298.298", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.321.321", "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": 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": "Q92819-1.303.303", "start_pos": 303, "end_pos": 303, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs879177523", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs879177523", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs879177523", "url": "https://www.ensembl.org/id/rs879177523", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "PLGMYRNSLLHEFVEDWYNQ", "down_seq": "FMGNQCSFGDDRHLTNRVLS", "snv": [ { "evidence": [ { "id": "rs879177523", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs879177523" }, { "id": "rs879177523", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs879177523" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614860", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E303", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.298.298", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.302.302", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.323.323", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.309.309", "start_pos": 309, "end_pos": 309, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "NSLLHEFVEDWYNQEFMGNQ", "down_seq": "SFGDDRHLTNRVLSLGYATK", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "C", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614843", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "C309", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.298.298", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.302.302", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.328.328", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.310.310", "start_pos": 310, "end_pos": 310, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SLLHEFVEDWYNQEFMGNQC", "down_seq": "FGDDRHLTNRVLSLGYATKY", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "9251", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614838", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S310", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.298.298", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.302.302", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.328.328", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.330.330", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.314.314", "start_pos": 314, "end_pos": 314, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs763034352", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763034352", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs763034352", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763034352", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs763034352", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763034352", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "EFVEDWYNQEFMGNQCSFGD", "down_seq": "RHLTNRVLSLGYATKYTARS", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "id": "rs763034352", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763034352" }, { "id": "rs763034352", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763034352" }, { "id": "rs763034352", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763034352" } ], "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, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614828", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D314", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.298.298", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.302.302", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.328.328", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.334.334", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.315.315", "start_pos": 315, "end_pos": 315, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FVEDWYNQEFMGNQCSFGDD", "down_seq": "HLTNRVLSLGYATKYTARSK", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614824", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R315", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.298.298", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.302.302", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.328.328", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.334.334", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.318.318", "start_pos": 318, "end_pos": 318, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1812680212", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812680212", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812680212", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812680212#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "DWYNQEFMGNQCSFGDDRHL", "down_seq": "NRVLSLGYATKYTARSKCLT", "snv": [ { "evidence": [ { "id": "rs1812680212", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812680212" }, { "id": "rs1812680212", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812680212#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614815", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T318", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.298.298", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.302.302", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.328.328", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.338.338", "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": "Q92819-1.319.319", "start_pos": 319, "end_pos": 319, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "WYNQEFMGNQCSFGDDRHLT", "down_seq": "RVLSLGYATKYTARSKCLTE", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614812", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N319", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.302.302", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.328.328", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.339.339", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.31.31", "start_pos": 31, "end_pos": 31, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1812897452", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812897452", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812897452", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812897452#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "RIIGTTLFGVSLLLGITAAY", "down_seq": "VGYQFIQTDNYYFSFGLYGA", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629248", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "I31", "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" ] }, { "evidence": [ { "id": "rs1812897452", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812897452" }, { "id": "rs1812897452", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812897452#frequency_tab" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629250", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I31", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.51.51", "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": 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": "Q92819-1.320.320", "start_pos": 320, "end_pos": 320, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YNQEFMGNQCSFGDDRHLTN", "down_seq": "VLSLGYATKYTARSKCLTET", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614809", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R320", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "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, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614810", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R320", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.302.302", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.328.328", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.339.339", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q92819-1.321.321", "start_pos": 321, "end_pos": 321, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1189098970", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1189098970", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1189098970", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1189098970#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1189098970", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1189098970", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "NQEFMGNQCSFGDDRHLTNR", "down_seq": "LSLGYATKYTARSKCLTETP", "snv": [ { "evidence": [ { "id": "rs1189098970", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1189098970" }, { "id": "rs1189098970", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1189098970#frequency_tab" }, { "id": "rs1189098970", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1189098970" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614807", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V321", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1189098970", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1189098970" }, { "id": "rs1189098970", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1189098970#frequency_tab" }, { "id": "rs1189098970", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1189098970" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614807", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V321", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.302.302", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.328.328", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.339.339", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q92819-1.323.323", "start_pos": 323, "end_pos": 323, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1446884497", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1446884497", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1446884497", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1446884497", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EFMGNQCSFGDDRHLTNRVL", "down_seq": "LGYATKYTARSKCLTETPIE", "snv": [ { "evidence": [ { "id": "rs1446884497", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1446884497" }, { "id": "rs1446884497", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1446884497" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614801", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S323", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.328.328", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.343.343", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.324.324", "start_pos": 324, "end_pos": 324, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs965932191", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs965932191", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs965932191", "url": "https://www.ensembl.org/id/rs965932191", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "FMGNQCSFGDDRHLTNRVLS", "down_seq": "GYATKYTARSKCLTETPIEY", "snv": [ { "evidence": [ { "id": "rs965932191", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs965932191" }, { "id": "rs965932191", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs965932191" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614798", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L324", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q92819-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.328.328", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.343.343", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.330.330", "start_pos": 330, "end_pos": 330, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs147343719", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147343719", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs147343719", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147343719", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs147343719", "url": "https://www.ncbi.nlm.nih.gov/snp/rs147343719#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs147343719", "url": "http://gnomad.broadinstitute.org/awesome?query=rs147343719", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1280590765", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1280590765", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1280590765", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1280590765", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "SFGDDRHLTNRVLSLGYATK", "down_seq": "TARSKCLTETPIEYLRWLNQ", "snv": [ { "evidence": [ { "id": "rs147343719", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147343719" }, { "id": "rs147343719", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147343719" }, { "id": "rs147343719", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs147343719#frequency_tab" }, { "id": "rs147343719", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs147343719" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614778", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y330", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1280590765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1280590765" }, { "id": "rs1280590765", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1280590765" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614779", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y330", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.328.328", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.350.350", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q92819-1.331.331", "start_pos": 331, "end_pos": 331, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1812679674", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812679674", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812679674", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812679674#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1812679674", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1812679674", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "FGDDRHLTNRVLSLGYATKY", "down_seq": "ARSKCLTETPIEYLRWLNQQ", "snv": [ { "evidence": [ { "id": "rs1812679674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812679674" }, { "id": "rs1812679674", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812679674#frequency_tab" }, { "id": "rs1812679674", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1812679674" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614777", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T331", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614776", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T331", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q92819-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.328.328", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.350.350", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.351.351", "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": "Q92819-1.334.334", "start_pos": 334, "end_pos": 334, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs745749605", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745749605", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs745749605", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745749605", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs745749605", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745749605#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs745749605", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745749605", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DRHLTNRVLSLGYATKYTAR", "down_seq": "KCLTETPIEYLRWLNQQTRW", "snv": [ { "evidence": [ { "id": "rs745749605", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745749605" }, { "id": "rs745749605", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745749605" }, { "id": "rs745749605", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745749605#frequency_tab" }, { "id": "rs745749605", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745749605" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614768", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S334", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "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: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614767", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S334", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.328.328", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.350.350", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.354.354", "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": 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": "Q92819-1.336.336", "start_pos": 336, "end_pos": 336, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs778639389", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778639389", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs778639389", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778639389", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs778639389", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778639389", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "HLTNRVLSLGYATKYTARSK", "down_seq": "LTETPIEYLRWLNQQTRWSK", "snv": [ { "evidence": [ { "id": "rs778639389", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778639389" }, { "id": "rs778639389", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778639389" }, { "id": "rs778639389", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778639389" } ], "glycoeffect": [], "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614761", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C336", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q92819-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.328.328", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.350.350", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.356.356", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.337.337", "start_pos": 337, "end_pos": 337, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "LTNRVLSLGYATKYTARSKC", "down_seq": "TETPIEYLRWLNQQTRWSKS", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "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, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614759", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L337", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.328.328", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.350.350", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.356.356", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.357.357", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.338.338", "start_pos": 338, "end_pos": 338, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "TNRVLSLGYATKYTARSKCL", "down_seq": "ETPIEYLRWLNQQTRWSKSY", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614755", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T338", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.328.328", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.350.350", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.356.356", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.358.358", "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": "Q92819-1.339.339", "start_pos": 339, "end_pos": 339, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "NRVLSLGYATKYTARSKCLT", "down_seq": "TPIEYLRWLNQQTRWSKSYF", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "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, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614753", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E339", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.328.328", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.350.350", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.356.356", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.359.359", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.342.342", "start_pos": 342, "end_pos": 342, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1812679093", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812679093", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812679093", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812679093#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1812679093", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1812679093", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs903665544", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs903665544", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs903665544", "url": "https://www.ncbi.nlm.nih.gov/snp/rs903665544#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs903665544", "url": "http://gnomad.broadinstitute.org/awesome?query=rs903665544", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1412872986", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1412872986", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1412872986", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1412872986#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1412872986", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1412872986", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "LSLGYATKYTARSKCLTETP", "down_seq": "EYLRWLNQQTRWSKSYFREW", "snv": [ { "evidence": [ { "id": "rs1812679093", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812679093" }, { "id": "rs1812679093", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812679093#frequency_tab" }, { "id": "rs1812679093", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1812679093" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614742", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I342", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs903665544", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs903665544" }, { "id": "rs903665544", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs903665544#frequency_tab" }, { "id": "rs903665544", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs903665544" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614743", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I342", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "id": "rs1412872986", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1412872986" }, { "id": "rs1412872986", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1412872986#frequency_tab" }, { "id": "rs1412872986", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1412872986" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "4", "frequency": "0.1", "sequence_org": "I", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614744", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "I342", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.328.328", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.350.350", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.356.356", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.360.360", "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": 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": "Q92819-1.343.343", "start_pos": 343, "end_pos": 343, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs35375618", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs35375618", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs35375618", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs35375618", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs35375618", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs35375618", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs35375618", "url": "https://www.ncbi.nlm.nih.gov/snp/rs35375618#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs35375618", "url": "http://gnomad.broadinstitute.org/awesome?query=rs35375618", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "SLGYATKYTARSKCLTETPI", "down_seq": "YLRWLNQQTRWSKSYFREWL", "snv": [ { "evidence": [ { "id": "rs35375618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs35375618" }, { "id": "rs35375618", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs35375618" }, { "id": "rs35375618", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs35375618" }, { "id": "rs35375618", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs35375618#frequency_tab" }, { "id": "rs35375618", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs35375618" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614739", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0357143", "site_lbl": "E343", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.328.328", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.350.350", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.356.356", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.360.360", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.347.347", "start_pos": 347, "end_pos": 347, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "ATKYTARSKCLTETPIEYLR", "down_seq": "LNQQTRWSKSYFREWLYNAM", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614727", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "W347", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614728", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "W347", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.328.328", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.350.350", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.356.356", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.367.367", "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": 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": "Q92819-1.349.349", "start_pos": 349, "end_pos": 349, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "KYTARSKCLTETPIEYLRWL", "down_seq": "QQTRWSKSYFREWLYNAMWF", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614722", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "N349", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.350.350", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.356.356", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.369.369", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.350.350", "start_pos": 350, "end_pos": 350, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "YTARSKCLTETPIEYLRWLN", "down_seq": "QTRWSKSYFREWLYNAMWFH", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614720", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Q350", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.356.356", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.369.369", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.351.351", "start_pos": 351, "end_pos": 351, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "TARSKCLTETPIEYLRWLNQ", "down_seq": "TRWSKSYFREWLYNAMWFHK", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "3", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614715", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Q351", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.350.350", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.356.356", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.369.369", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.353.353", "start_pos": 353, "end_pos": 353, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1342999981", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1342999981", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1342999981", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1342999981", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RSKCLTETPIEYLRWLNQQT", "down_seq": "WSKSYFREWLYNAMWFHKHH", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614711", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R353", "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": "rs1342999981", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1342999981" }, { "id": "rs1342999981", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1342999981" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614710", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R353", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.350.350", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.356.356", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.373.373", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "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": "Q92819-1.354.354", "start_pos": 354, "end_pos": 354, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "SKCLTETPIEYLRWLNQQTR", "down_seq": "SKSYFREWLYNAMWFHKHHL", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "W", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614706", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "W354", "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" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614706", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "W354", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.350.350", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.356.356", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.373.373", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_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": "Q92819-1.356.356", "start_pos": 356, "end_pos": 356, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "CLTETPIEYLRWLNQQTRWS", "down_seq": "SYFREWLYNAMWFHKHHLWM", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614701", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K356", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.350.350", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.376.376", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.357.357", "start_pos": 357, "end_pos": 357, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs892160128", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs892160128", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs892160128", "url": "https://www.ensembl.org/id/rs892160128", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LTETPIEYLRWLNQQTRWSK", "down_seq": "YFREWLYNAMWFHKHHLWMT", "snv": [ { "evidence": [ { "id": "rs892160128", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs892160128" }, { "id": "rs892160128", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs892160128" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614698", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S357", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.350.350", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.356.356", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.377.377", "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": "Q92819-1.358.358", "start_pos": 358, "end_pos": 358, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1475731808", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1475731808", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1475731808", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1475731808", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "TETPIEYLRWLNQQTRWSKS", "down_seq": "FREWLYNAMWFHKHHLWMTY", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "Y", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614694", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Y358", "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": "rs1475731808", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1475731808" }, { "id": "rs1475731808", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1475731808" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614695", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y358", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.350.350", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.356.356", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.377.377", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "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": "Q92819-1.359.359", "start_pos": 359, "end_pos": 359, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs763377837", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763377837", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs763377837", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763377837", "database": "ExAC", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "ETPIEYLRWLNQQTRWSKSY", "down_seq": "REWLYNAMWFHKHHLWMTYE", "snv": [ { "evidence": [ { "id": "rs763377837", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763377837" }, { "id": "rs763377837", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763377837" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614693", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F359", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.350.350", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.356.356", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.379.379", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.35.35", "start_pos": 35, "end_pos": 35, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1812897356", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812897356", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812897356", "url": "https://www.ensembl.org/id/rs1812897356", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "TTLFGVSLLLGITAAYIVGY", "down_seq": "FIQTDNYYFSFGLYGAFLAS", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629238", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q35", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "id": "rs1812897356", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812897356" }, { "id": "rs1812897356", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1812897356" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629236", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q35", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.54.54", "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": "Q92819-1.366.366", "start_pos": 366, "end_pos": 366, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1231036907", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1231036907", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1231036907", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1231036907#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "RWLNQQTRWSKSYFREWLYN", "down_seq": "MWFHKHHLWMTYEAIITGFF", "snv": [ { "evidence": [ { "id": "rs1231036907", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1231036907" }, { "id": "rs1231036907", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1231036907#frequency_tab" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614672", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A366", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.350.350", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.356.356", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.385.385", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.368.368", "start_pos": 368, "end_pos": 368, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "LNQQTRWSKSYFREWLYNAM", "down_seq": "FHKHHLWMTYEAIITGFFPF", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614664", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "W368", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.350.350", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.356.356", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.388.388", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.369.369", "start_pos": 369, "end_pos": 369, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs771021761", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771021761", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs771021761", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771021761", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs771021761", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771021761", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "NQQTRWSKSYFREWLYNAMW", "down_seq": "HKHHLWMTYEAIITGFFPFF", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "F", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614663", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "F369", "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" ] }, { "evidence": [ { "id": "rs771021761", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771021761" }, { "id": "rs771021761", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771021761" }, { "id": "rs771021761", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771021761" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614663", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F369", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.350.350", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.356.356", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.388.388", "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": 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": "Q92819-1.36.36", "start_pos": 36, "end_pos": 36, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "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": "F", "start_aa": "F", "up_seq": "TLFGVSLLLGITAAYIVGYQ", "down_seq": "IQTDNYYFSFGLYGAFLASH", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" } ], "glycoeffect": [], "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "F", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629233", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "F36", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q92819-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.56.56", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.373.373", "start_pos": 373, "end_pos": 373, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "RWSKSYFREWLYNAMWFHKH", "down_seq": "LWMTYEAIITGFFPFFLIAT", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614650", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "H373", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614651", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "H373", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.356.356", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.391.391", "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": 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": "Q92819-1.376.376", "start_pos": 376, "end_pos": 376, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "KSYFREWLYNAMWFHKHHLW", "down_seq": "TYEAIITGFFPFFLIATVIQ", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614640", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "M376", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.356.356", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.394.394", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.395.395", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.377.377", "start_pos": 377, "end_pos": 377, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1237720251", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1237720251", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1237720251", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1237720251#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SYFREWLYNAMWFHKHHLWM", "down_seq": "YEAIITGFFPFFLIATVIQL", "snv": [ { "evidence": [ { "id": "rs1237720251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1237720251" }, { "id": "rs1237720251", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1237720251#frequency_tab" } ], "glycoeffect": [], "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614639", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T377", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.394.394", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.395.395", "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": "Q92819-1.37.37", "start_pos": 37, "end_pos": 37, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs962415696", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs962415696", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs962415696", "url": "https://www.ensembl.org/id/rs962415696", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "LFGVSLLLGITAAYIVGYQF", "down_seq": "QTDNYYFSFGLYGAFLASHL", "snv": [ { "evidence": [ { "id": "rs962415696", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs962415696" }, { "id": "rs962415696", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs962415696" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629232", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I37", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q92819-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.56.56", "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": "Q92819-1.380.380", "start_pos": 380, "end_pos": 380, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "REWLYNAMWFHKHHLWMTYE", "down_seq": "IITGFFPFFLIATVIQLFYR", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614630", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A380", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.394.394", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.400.400", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.381.381", "start_pos": 381, "end_pos": 381, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1314341006", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1314341006", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1314341006", "url": "https://www.ensembl.org/id/rs1314341006", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "EWLYNAMWFHKHHLWMTYEA", "down_seq": "ITGFFPFFLIATVIQLFYRG", "snv": [ { "evidence": [ { "id": "rs1314341006", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1314341006" }, { "id": "rs1314341006", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1314341006" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614627", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I381", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q92819-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.394.394", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.400.400", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.401.401", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.382.382", "start_pos": 382, "end_pos": 382, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1563619268", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1563619268", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1563619268", "url": "https://www.ensembl.org/id/rs1563619268", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1484522992", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1484522992", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1484522992", "url": "https://www.ensembl.org/id/rs1484522992", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "WLYNAMWFHKHHLWMTYEAI", "down_seq": "TGFFPFFLIATVIQLFYRGK", "snv": [ { "evidence": [ { "id": "rs1563619268", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1563619268" }, { "id": "rs1563619268", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1563619268" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614623", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I382", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1484522992", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1484522992" }, { "id": "rs1484522992", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1484522992" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614624", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I382", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q92819-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.394.394", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.400.400", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.401.401", "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": "Q92819-1.383.383", "start_pos": 383, "end_pos": 383, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs747959580", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747959580", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs747959580", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747959580", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs747959580", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747959580", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LYNAMWFHKHHLWMTYEAII", "down_seq": "GFFPFFLIATVIQLFYRGKI", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614620", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T383", "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": "rs747959580", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747959580" }, { "id": "rs747959580", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747959580" }, { "id": "rs747959580", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747959580" } ], "glycoeffect": [], "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614621", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T383", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q92819-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.394.394", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.400.400", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.403.403", "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": 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": "Q92819-1.384.384", "start_pos": 384, "end_pos": 384, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "YNAMWFHKHHLWMTYEAIIT", "down_seq": "FFPFFLIATVIQLFYRGKIW", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614618", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G384", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q92819-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.394.394", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.400.400", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.404.404", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.385.385", "start_pos": 385, "end_pos": 385, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "NAMWFHKHHLWMTYEAIITG", "down_seq": "FPFFLIATVIQLFYRGKIWN", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "F", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614613", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "F385", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.394.394", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.400.400", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.404.404", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.387.387", "start_pos": 387, "end_pos": 387, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "MWFHKHHLWMTYEAIITGFF", "down_seq": "FFLIATVIQLFYRGKIWNIL", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614609", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P387", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.394.394", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.400.400", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.407.407", "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": "Q92819-1.388.388", "start_pos": 388, "end_pos": 388, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs748993286", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748993286", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748993286", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748993286", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748993286", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748993286", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "WFHKHHLWMTYEAIITGFFP", "down_seq": "FLIATVIQLFYRGKIWNILL", "snv": [ { "evidence": [ { "id": "rs748993286", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748993286" }, { "id": "rs748993286", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748993286" }, { "id": "rs748993286", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748993286" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614604", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F388", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.394.394", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.400.400", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.408.408", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.38.38", "start_pos": 38, "end_pos": 38, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1316117071", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1316117071", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1316117071", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1316117071#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1316117071", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1316117071", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "FGVSLLLGITAAYIVGYQFI", "down_seq": "TDNYYFSFGLYGAFLASHLI", "snv": [ { "evidence": [ { "id": "rs1316117071", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1316117071" }, { "id": "rs1316117071", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1316117071#frequency_tab" }, { "id": "rs1316117071", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1316117071" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629228", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q38", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.58.58", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.391.391", "start_pos": 391, "end_pos": 391, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs779659123", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779659123", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs779659123", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779659123", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs779659123", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779659123", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "KHHLWMTYEAIITGFFPFFL", "down_seq": "ATVIQLFYRGKIWNILLFLL", "snv": [ { "evidence": [ { "id": "rs779659123", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779659123" }, { "id": "rs779659123", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779659123" }, { "id": "rs779659123", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779659123" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614597", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I391", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779659123", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779659123" }, { "id": "rs779659123", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779659123" }, { "id": "rs779659123", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779659123" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614597", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I391", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q92819-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.394.394", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.400.400", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.409.409", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.411.411", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q92819-1.394.394", "start_pos": 394, "end_pos": 394, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1409445927", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1409445927", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1409445927", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1409445927", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "LWMTYEAIITGFFPFFLIAT", "down_seq": "IQLFYRGKIWNILLFLLTVQ", "snv": [ { "evidence": [ { "id": "rs1409445927", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1409445927" }, { "id": "rs1409445927", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1409445927" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614588", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V394", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q92819-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.400.400", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.409.409", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.411.411", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.414.414", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.395.395", "start_pos": 395, "end_pos": 395, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "WMTYEAIITGFFPFFLIATV", "down_seq": "QLFYRGKIWNILLFLLTVQL", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614585", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "I395", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614583", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "I395", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.394.394", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.400.400", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.409.409", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.411.411", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.414.414", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.415.415", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q92819-1.399.399", "start_pos": 399, "end_pos": 399, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs948889924", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs948889924", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs948889924", "url": "https://www.ncbi.nlm.nih.gov/snp/rs948889924#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs948889924", "url": "http://gnomad.broadinstitute.org/awesome?query=rs948889924", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "EAIITGFFPFFLIATVIQLF", "down_seq": "RGKIWNILLFLLTVQLVGLI", "snv": [ { "evidence": [ { "id": "rs948889924", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs948889924" }, { "id": "rs948889924", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs948889924#frequency_tab" }, { "id": "rs948889924", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs948889924" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614572", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y399", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.394.394", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.400.400", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.409.409", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.411.411", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.414.414", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.415.415", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.416.416", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.417.417", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.418.418", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.419.419", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.39.39", "start_pos": 39, "end_pos": 39, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs774095555", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774095555", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs774095555", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774095555", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs774095555", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774095555#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs774095555", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774095555", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GVSLLLGITAAYIVGYQFIQ", "down_seq": "DNYYFSFGLYGAFLASHLII", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "id": "rs774095555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774095555" }, { "id": "rs774095555", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774095555" }, { "id": "rs774095555", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774095555#frequency_tab" }, { "id": "rs774095555", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774095555" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629225", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T39", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.59.59", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.3.3", "start_pos": 3, "end_pos": 3, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1378486182", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1378486182", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1378486182", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1378486182", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "MH", "down_seq": "ERFLCILRIIGTTLFGVSLL", "snv": [ { "evidence": [ { "id": "rs1378486182", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1378486182" }, { "id": "rs1378486182", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1378486182" } ], "glycoeffect": [], "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629333", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C3", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q92819-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.23.23", "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": "Q92819-1.401.401", "start_pos": 401, "end_pos": 401, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1586501252", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1586501252", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1586501252", "url": "https://www.ensembl.org/id/rs1586501252", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "IITGFFPFFLIATVIQLFYR", "down_seq": "KIWNILLFLLTVQLVGLIKS", "snv": [ { "evidence": [ { "id": "rs1586501252", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1586501252" }, { "id": "rs1586501252", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1586501252" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614566", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G401", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.394.394", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.400.400", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.409.409", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.411.411", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.414.414", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.415.415", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.416.416", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.417.417", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.418.418", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.420.420", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.403.403", "start_pos": 403, "end_pos": 403, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "TGFFPFFLIATVIQLFYRGK", "down_seq": "WNILLFLLTVQLVGLIKSSF", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614559", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "I403", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.394.394", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.400.400", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.409.409", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.411.411", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.414.414", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.415.415", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.416.416", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.417.417", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.418.418", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.420.420", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.422.422", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.404.404", "start_pos": 404, "end_pos": 404, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "GFFPFFLIATVIQLFYRGKI", "down_seq": "NILLFLLTVQLVGLIKSSFA", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614557", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "W404", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.394.394", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.400.400", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.409.409", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.411.411", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.414.414", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.415.415", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.416.416", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.417.417", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.418.418", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.420.420", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.422.422", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.424.424", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.406.406", "start_pos": 406, "end_pos": 406, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1812677395", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812677395", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812677395", "url": "https://www.ensembl.org/id/rs1812677395", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "FPFFLIATVIQLFYRGKIWN", "down_seq": "LLFLLTVQLVGLIKSSFASC", "snv": [ { "evidence": [ { "id": "rs1812677395", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812677395" }, { "id": "rs1812677395", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1812677395" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614552", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I406", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.394.394", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.400.400", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.409.409", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.411.411", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.414.414", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.415.415", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.416.416", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.417.417", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.418.418", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.420.420", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.422.422", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.424.424", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.426.426", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.407.407", "start_pos": 407, "end_pos": 407, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "PFFLIATVIQLFYRGKIWNI", "down_seq": "LFLLTVQLVGLIKSSFASCL", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614549", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L407", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614548", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "L407", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.394.394", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.400.400", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.409.409", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.411.411", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.414.414", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.415.415", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.416.416", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.417.417", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.418.418", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.420.420", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.422.422", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.424.424", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.426.426", "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": 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": "Q92819-1.408.408", "start_pos": 408, "end_pos": 408, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs141700122", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141700122", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs141700122", "url": "http://gnomad.broadinstitute.org/awesome?query=rs141700122", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "FFLIATVIQLFYRGKIWNIL", "down_seq": "FLLTVQLVGLIKSSFASCLR", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "id": "rs141700122", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141700122" }, { "id": "rs141700122", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs141700122" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614546", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L408", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.394.394", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.400.400", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.409.409", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.411.411", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.414.414", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.415.415", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.416.416", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.417.417", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.418.418", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.420.420", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.422.422", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.424.424", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.428.428", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.409.409", "start_pos": 409, "end_pos": 409, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1471609176", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1471609176", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1471609176", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1471609176", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "FLIATVIQLFYRGKIWNILL", "down_seq": "LLTVQLVGLIKSSFASCLRG", "snv": [ { "evidence": [ { "id": "rs1471609176", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1471609176" }, { "id": "rs1471609176", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1471609176" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614541", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F409", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q92819-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.394.394", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.400.400", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.411.411", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.414.414", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.415.415", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.416.416", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.417.417", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.418.418", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.420.420", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.422.422", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.424.424", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.428.428", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.429.429", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.411.411", "start_pos": 411, "end_pos": 411, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "IATVIQLFYRGKIWNILLFL", "down_seq": "TVQLVGLIKSSFASCLRGNI", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614537", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "L411", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.394.394", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.400.400", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.409.409", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.414.414", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.415.415", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.416.416", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.417.417", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.418.418", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.420.420", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.422.422", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.424.424", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.428.428", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.429.429", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.430.430", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.431.431", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.413.413", "start_pos": 413, "end_pos": 413, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1469366618", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1469366618", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1469366618", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1469366618", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs758898248", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758898248", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs758898248", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758898248", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs758898248", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758898248", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "TVIQLFYRGKIWNILLFLLT", "down_seq": "QLVGLIKSSFASCLRGNIVM", "snv": [ { "evidence": [ { "id": "rs1469366618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1469366618" }, { "id": "rs1469366618", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1469366618" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614530", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V413", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1469366618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1469366618" }, { "id": "rs1469366618", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1469366618" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614530", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V413", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758898248", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758898248" }, { "id": "rs758898248", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758898248" }, { "id": "rs758898248", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758898248" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614531", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V413", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.394.394", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.400.400", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.409.409", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.411.411", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.414.414", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.415.415", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.416.416", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.417.417", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.418.418", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.420.420", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.422.422", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.424.424", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.428.428", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.429.429", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.430.430", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.431.431", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.432.432", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.433.433", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q92819-1.414.414", "start_pos": 414, "end_pos": 414, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs976094984", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs976094984", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs976094984", "url": "https://www.ensembl.org/id/rs976094984", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "VIQLFYRGKIWNILLFLLTV", "down_seq": "LVGLIKSSFASCLRGNIVMV", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614528", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q414", "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" ] }, { "evidence": [ { "id": "rs976094984", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs976094984" }, { "id": "rs976094984", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs976094984" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614526", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q414", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614527", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Q414", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.394.394", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.400.400", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.409.409", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.411.411", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.415.415", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.416.416", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.417.417", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.418.418", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.420.420", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.422.422", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.424.424", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.428.428", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.429.429", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.430.430", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.431.431", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.432.432", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.434.434", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q92819-1.415.415", "start_pos": 415, "end_pos": 415, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1812676956", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812676956", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812676956", "url": "https://www.ensembl.org/id/rs1812676956", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "IQLFYRGKIWNILLFLLTVQ", "down_seq": "VGLIKSSFASCLRGNIVMVF", "snv": [ { "evidence": [ { "id": "rs1812676956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812676956" }, { "id": "rs1812676956", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1812676956" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614525", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L415", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.400.400", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.409.409", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.411.411", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.414.414", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.416.416", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.417.417", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.418.418", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.420.420", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.422.422", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.424.424", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.428.428", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.429.429", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.430.430", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.431.431", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.432.432", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.434.434", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.416.416", "start_pos": 416, "end_pos": 416, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1812676889", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812676889", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812676889", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1812676889", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "QLFYRGKIWNILLFLLTVQL", "down_seq": "GLIKSSFASCLRGNIVMVFM", "snv": [ { "evidence": [ { "id": "rs1812676889", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812676889" }, { "id": "rs1812676889", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1812676889" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614522", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V416", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q92819-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.400.400", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.409.409", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.411.411", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.414.414", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.415.415", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.417.417", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.418.418", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.420.420", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.422.422", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.424.424", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.428.428", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.429.429", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.430.430", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.431.431", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.432.432", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.434.434", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.436.436", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.417.417", "start_pos": 417, "end_pos": 417, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "LFYRGKIWNILLFLLTVQLV", "down_seq": "LIKSSFASCLRGNIVMVFMS", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614519", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G417", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q92819-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.400.400", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.409.409", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.411.411", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.414.414", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.415.415", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.416.416", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.418.418", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.420.420", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.422.422", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.424.424", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.428.428", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.429.429", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.430.430", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.431.431", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.432.432", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.434.434", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.437.437", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.418.418", "start_pos": 418, "end_pos": 418, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs765574396", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765574396", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs765574396", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765574396", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs765574396", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765574396", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "FYRGKIWNILLFLLTVQLVG", "down_seq": "IKSSFASCLRGNIVMVFMSL", "snv": [ { "evidence": [ { "id": "rs765574396", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765574396" }, { "id": "rs765574396", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765574396" }, { "id": "rs765574396", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765574396" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614516", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L418", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.400.400", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.409.409", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.411.411", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.414.414", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.415.415", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.416.416", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.417.417", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.420.420", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.422.422", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.424.424", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.428.428", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.429.429", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.430.430", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.431.431", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.432.432", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.434.434", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.437.437", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.419.419", "start_pos": 419, "end_pos": 419, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1812676800", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812676800", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812676800", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812676800#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "YRGKIWNILLFLLTVQLVGL", "down_seq": "KSSFASCLRGNIVMVFMSLY", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614512", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "I419", "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": "rs1812676800", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812676800" }, { "id": "rs1812676800", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812676800#frequency_tab" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614511", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I419", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.400.400", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.409.409", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.411.411", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.414.414", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.415.415", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.416.416", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.417.417", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.418.418", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.420.420", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.422.422", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.424.424", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.428.428", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.429.429", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.430.430", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.431.431", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.432.432", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.434.434", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.437.437", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q92819-1.420.420", "start_pos": 420, "end_pos": 420, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "RGKIWNILLFLLTVQLVGLI", "down_seq": "SSFASCLRGNIVMVFMSLYS", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614510", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K420", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.400.400", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.409.409", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.411.411", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.414.414", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.415.415", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.416.416", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.417.417", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.418.418", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.422.422", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.424.424", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.428.428", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.429.429", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.430.430", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.431.431", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.432.432", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.434.434", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.437.437", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.422.422", "start_pos": 422, "end_pos": 422, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KIWNILLFLLTVQLVGLIKS", "down_seq": "FASCLRGNIVMVFMSLYSVL", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "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: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614503", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S422", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.409.409", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.411.411", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.414.414", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.415.415", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.416.416", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.417.417", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.418.418", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.420.420", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.424.424", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.428.428", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.429.429", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.430.430", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.431.431", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.432.432", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.434.434", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.437.437", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.441.441", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.424.424", "start_pos": 424, "end_pos": 424, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "WNILLFLLTVQLVGLIKSSF", "down_seq": "SCLRGNIVMVFMSLYSVLYM", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614498", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A424", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.409.409", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.411.411", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.414.414", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.415.415", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.416.416", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.417.417", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.418.418", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.420.420", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.422.422", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.428.428", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.429.429", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.430.430", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.431.431", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.432.432", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.434.434", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.437.437", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.441.441", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.443.443", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.444.444", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.426.426", "start_pos": 426, "end_pos": 426, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1812676604", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812676604", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812676604", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812676604#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1812676604", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1812676604", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "ILLFLLTVQLVGLIKSSFAS", "down_seq": "LRGNIVMVFMSLYSVLYMSS", "snv": [ { "evidence": [ { "id": "rs1812676604", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812676604" }, { "id": "rs1812676604", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812676604#frequency_tab" }, { "id": "rs1812676604", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1812676604" } ], "glycoeffect": [], "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614491", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C426", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.409.409", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.411.411", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.414.414", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.415.415", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.416.416", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.417.417", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.418.418", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.420.420", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.422.422", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.424.424", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.428.428", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.429.429", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.430.430", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.431.431", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.432.432", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.434.434", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.437.437", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.441.441", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.443.443", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.444.444", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.445.445", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.446.446", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.428.428", "start_pos": 428, "end_pos": 428, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1277085913", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1277085913", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1277085913", "url": "https://www.ensembl.org/id/rs1277085913", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LFLLTVQLVGLIKSSFASCL", "down_seq": "GNIVMVFMSLYSVLYMSSLL", "snv": [ { "evidence": [ { "id": "rs1277085913", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1277085913" }, { "id": "rs1277085913", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1277085913" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614485", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R428", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.409.409", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.411.411", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.414.414", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.415.415", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.416.416", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.417.417", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.418.418", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.420.420", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.422.422", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.424.424", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.429.429", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.430.430", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.431.431", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.432.432", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.434.434", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.437.437", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.441.441", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.443.443", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.444.444", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.445.445", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.446.446", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.429.429", "start_pos": 429, "end_pos": 429, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "FLLTVQLVGLIKSSFASCLR", "down_seq": "NIVMVFMSLYSVLYMSSLLP", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614483", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G429", "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" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614482", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G429", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.409.409", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.411.411", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.414.414", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.415.415", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.416.416", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.417.417", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.418.418", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.420.420", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.422.422", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.424.424", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.428.428", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.430.430", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.431.431", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.432.432", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.434.434", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.437.437", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.441.441", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.443.443", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.444.444", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.445.445", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.446.446", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.449.449", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q92819-1.430.430", "start_pos": 430, "end_pos": 430, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1007443720", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1007443720", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1007443720", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1007443720", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LLTVQLVGLIKSSFASCLRG", "down_seq": "IVMVFMSLYSVLYMSSLLPA", "snv": [ { "evidence": [ { "id": "rs1007443720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1007443720" }, { "id": "rs1007443720", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1007443720" } ], "glycoeffect": [], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614479", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N430", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.411.411", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.414.414", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.415.415", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.416.416", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.417.417", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.418.418", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.420.420", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.422.422", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.424.424", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.428.428", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.429.429", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.431.431", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.432.432", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.434.434", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.437.437", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.441.441", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.443.443", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.444.444", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.445.445", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.446.446", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.449.449", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.450.450", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.431.431", "start_pos": 431, "end_pos": 431, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs760759781", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760759781", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs760759781", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760759781", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs760759781", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760759781", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "LTVQLVGLIKSSFASCLRGN", "down_seq": "VMVFMSLYSVLYMSSLLPAK", "snv": [ { "evidence": [ { "id": "rs760759781", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760759781" }, { "id": "rs760759781", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760759781" }, { "id": "rs760759781", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760759781" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614476", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I431", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760759781", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760759781" }, { "id": "rs760759781", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760759781" }, { "id": "rs760759781", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760759781" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614476", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I431", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.411.411", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.414.414", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.415.415", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.416.416", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.417.417", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.418.418", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.420.420", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.422.422", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.424.424", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.428.428", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.429.429", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.430.430", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.432.432", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.434.434", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.437.437", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.441.441", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.443.443", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.444.444", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.445.445", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.446.446", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.449.449", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.450.450", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.451.451", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q92819-1.432.432", "start_pos": 432, "end_pos": 432, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs772040759", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772040759", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs772040759", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772040759", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs772040759", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772040759#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs772040759", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772040759", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "TVQLVGLIKSSFASCLRGNI", "down_seq": "MVFMSLYSVLYMSSLLPAKM", "snv": [ { "evidence": [ { "id": "rs772040759", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772040759" }, { "id": "rs772040759", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772040759" }, { "id": "rs772040759", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772040759#frequency_tab" }, { "id": "rs772040759", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772040759" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614474", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V432", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772040759", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772040759" }, { "id": "rs772040759", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772040759" }, { "id": "rs772040759", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772040759#frequency_tab" }, { "id": "rs772040759", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772040759" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614474", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V432", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614474", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "V432", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.414.414", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.415.415", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.416.416", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.417.417", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.418.418", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.420.420", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.422.422", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.424.424", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.428.428", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.429.429", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.430.430", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.431.431", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.434.434", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.437.437", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.441.441", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.443.443", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.444.444", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.445.445", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.446.446", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.449.449", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.450.450", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.451.451", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.452.452", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q92819-1.433.433", "start_pos": 433, "end_pos": 433, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "VQLVGLIKSSFASCLRGNIV", "down_seq": "VFMSLYSVLYMSSLLPAKMF", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614469", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "M433", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.414.414", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.415.415", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.416.416", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.417.417", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.418.418", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.420.420", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.422.422", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.424.424", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.428.428", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.429.429", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.430.430", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.431.431", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.432.432", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.434.434", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.437.437", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.441.441", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.443.443", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.444.444", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.445.445", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.446.446", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.449.449", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.450.450", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.451.451", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.452.452", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.434.434", "start_pos": 434, "end_pos": 434, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1375884358", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1375884358", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1375884358", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1375884358", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "QLVGLIKSSFASCLRGNIVM", "down_seq": "FMSLYSVLYMSSLLPAKMFA", "snv": [ { "evidence": [ { "id": "rs1375884358", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1375884358" }, { "id": "rs1375884358", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1375884358" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614467", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V434", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.414.414", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.415.415", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.416.416", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.417.417", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.418.418", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.420.420", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.422.422", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.424.424", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.428.428", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.429.429", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.430.430", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.431.431", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.432.432", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.437.437", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.441.441", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.443.443", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.444.444", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.445.445", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.446.446", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.449.449", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.450.450", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.451.451", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.452.452", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.436.436", "start_pos": 436, "end_pos": 436, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs145797598", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145797598", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs145797598", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs145797598", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs145797598", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145797598", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs145797598", "url": "http://gnomad.broadinstitute.org/awesome?query=rs145797598", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1299466593", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1299466593", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1299466593", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1299466593#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "VGLIKSSFASCLRGNIVMVF", "down_seq": "SLYSVLYMSSLLPAKMFAIA", "snv": [ { "evidence": [ { "id": "rs145797598", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145797598" }, { "id": "rs145797598", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs145797598" }, { "id": "rs145797598", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145797598" }, { "id": "rs145797598", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs145797598" } ], "glycoeffect": [], "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614461", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "M436", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1299466593", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1299466593" }, { "id": "rs1299466593", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1299466593#frequency_tab" } ], "glycoeffect": [], "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614462", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M436", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.416.416", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.417.417", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.418.418", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.420.420", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.422.422", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.424.424", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.428.428", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.429.429", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.430.430", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.431.431", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.432.432", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.434.434", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.437.437", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.441.441", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.443.443", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.444.444", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.445.445", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.446.446", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.449.449", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.450.450", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.451.451", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.452.452", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.455.455", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.456.456", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q92819-1.437.437", "start_pos": 437, "end_pos": 437, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1812676001", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812676001", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812676001", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812676001#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GLIKSSFASCLRGNIVMVFM", "down_seq": "LYSVLYMSSLLPAKMFAIAT", "snv": [ { "evidence": [ { "id": "rs1812676001", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812676001" }, { "id": "rs1812676001", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812676001#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614459", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S437", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1812676001", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812676001" }, { "id": "rs1812676001", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812676001#frequency_tab" } ], "glycoeffect": [], "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614459", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S437", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "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: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614458", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S437", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.417.417", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.418.418", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.420.420", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.422.422", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.424.424", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.428.428", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.429.429", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.430.430", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.431.431", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.432.432", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.434.434", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.441.441", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.443.443", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.444.444", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.445.445", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.446.446", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.449.449", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.450.450", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.451.451", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.452.452", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.455.455", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.456.456", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.457.457", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q92819-1.441.441", "start_pos": 441, "end_pos": 441, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1812675818", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812675818", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812675818", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812675818#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "SSFASCLRGNIVMVFMSLYS", "down_seq": "LYMSSLLPAKMFAIATINKA", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "id": "rs1812675818", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812675818" }, { "id": "rs1812675818", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812675818#frequency_tab" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614446", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "V441", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.422.422", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.424.424", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.428.428", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.429.429", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.430.430", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.431.431", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.432.432", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.434.434", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.437.437", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.443.443", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.444.444", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.445.445", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.446.446", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.449.449", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.450.450", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.451.451", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.452.452", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.455.455", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.456.456", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.457.457", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.460.460", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.443.443", "start_pos": 443, "end_pos": 443, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "FASCLRGNIVMVFMSLYSVL", "down_seq": "MSSLLPAKMFAIATINKAGW", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614440", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Y443", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.424.424", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.428.428", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.429.429", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.430.430", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.431.431", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.432.432", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.434.434", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.437.437", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.441.441", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.444.444", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.445.445", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.446.446", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.449.449", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.450.450", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.451.451", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.452.452", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.455.455", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.456.456", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.457.457", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.460.460", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.462.462", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.463.463", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.444.444", "start_pos": 444, "end_pos": 444, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1812675705", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812675705", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812675705", "url": "https://www.ensembl.org/id/rs1812675705", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "ASCLRGNIVMVFMSLYSVLY", "down_seq": "SSLLPAKMFAIATINKAGWG", "snv": [ { "evidence": [ { "id": "rs1812675705", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812675705" }, { "id": "rs1812675705", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1812675705" } ], "glycoeffect": [], "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614436", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M444", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614438", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "M444", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.424.424", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.428.428", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.429.429", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.430.430", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.431.431", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.432.432", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.434.434", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.437.437", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.441.441", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.443.443", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.445.445", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.446.446", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.449.449", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.450.450", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.451.451", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.452.452", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.455.455", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.456.456", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.457.457", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.460.460", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.462.462", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.464.464", "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": 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": "Q92819-1.445.445", "start_pos": 445, "end_pos": 445, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SCLRGNIVMVFMSLYSVLYM", "down_seq": "SLLPAKMFAIATINKAGWGT", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614434", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S445", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.428.428", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.429.429", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.430.430", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.431.431", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.432.432", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.434.434", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.437.437", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.441.441", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.443.443", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.444.444", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.446.446", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.449.449", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.450.450", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.451.451", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.452.452", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.455.455", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.456.456", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.457.457", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.460.460", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.462.462", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.464.464", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.465.465", "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": "Q92819-1.446.446", "start_pos": 446, "end_pos": 446, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs748905450", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748905450", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748905450", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748905450", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748905450", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748905450", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "CLRGNIVMVFMSLYSVLYMS", "down_seq": "LLPAKMFAIATINKAGWGTS", "snv": [ { "evidence": [ { "id": "rs748905450", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748905450" }, { "id": "rs748905450", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748905450" }, { "id": "rs748905450", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748905450" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614432", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S446", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.428.428", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.429.429", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.430.430", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.431.431", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.432.432", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.434.434", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.437.437", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.441.441", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.443.443", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.444.444", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.445.445", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.449.449", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.450.450", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.451.451", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.452.452", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.455.455", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.456.456", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.457.457", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.460.460", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.462.462", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.464.464", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.465.465", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.466.466", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.449.449", "start_pos": 449, "end_pos": 449, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "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": "P", "start_aa": "P", "up_seq": "GNIVMVFMSLYSVLYMSSLL", "down_seq": "AKMFAIATINKAGWGTSGRK", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "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": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614422", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P449", "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: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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" } ], "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, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614422", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P449", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "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, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614423", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P449", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.429.429", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.430.430", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.431.431", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.432.432", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.434.434", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.437.437", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.441.441", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.443.443", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.444.444", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.445.445", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.446.446", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.450.450", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.451.451", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.452.452", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.455.455", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.456.456", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.457.457", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.460.460", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.462.462", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.464.464", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.465.465", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.466.466", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.468.468", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": 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_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.44.44", "start_pos": 44, "end_pos": 44, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1812897070", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812897070", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812897070", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1812897070", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "LGITAAYIVGYQFIQTDNYY", "down_seq": "SFGLYGAFLASHLIIQSLFA", "snv": [ { "evidence": [ { "id": "rs1812897070", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812897070" }, { "id": "rs1812897070", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1812897070" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629211", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F44", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.62.62", "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": "Q92819-1.450.450", "start_pos": 450, "end_pos": 450, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs62524928", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs62524928", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs62524928", "url": "https://www.ncbi.nlm.nih.gov/snp/rs62524928#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "NIVMVFMSLYSVLYMSSLLP", "down_seq": "KMFAIATINKAGWGTSGRKT", "snv": [ { "evidence": [ { "id": "rs62524928", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs62524928" }, { "id": "rs62524928", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs62524928#frequency_tab" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614420", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A450", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "id": "rs62524928", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs62524928" }, { "id": "rs62524928", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs62524928#frequency_tab" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614420", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A450", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.430.430", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.431.431", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.432.432", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.434.434", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.437.437", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.441.441", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.443.443", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.444.444", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.445.445", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.446.446", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.449.449", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.451.451", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.452.452", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.455.455", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.456.456", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.457.457", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.460.460", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.462.462", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.464.464", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.465.465", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.466.466", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.470.470", "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": 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": "Q92819-1.451.451", "start_pos": 451, "end_pos": 451, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "IVMVFMSLYSVLYMSSLLPA", "down_seq": "MFAIATINKAGWGTSGRKTI", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614415", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K451", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.431.431", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.432.432", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.434.434", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.437.437", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.441.441", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.443.443", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.444.444", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.445.445", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.446.446", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.449.449", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.450.450", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.452.452", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.455.455", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.456.456", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.457.457", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.460.460", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.462.462", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.464.464", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.465.465", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.466.466", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.470.470", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.471.471", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.452.452", "start_pos": 452, "end_pos": 452, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs769369242", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769369242", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs769369242", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769369242", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs769369242", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769369242", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "VMVFMSLYSVLYMSSLLPAK", "down_seq": "FAIATINKAGWGTSGRKTIV", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "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, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614412", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "M452", "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": "rs769369242", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769369242" }, { "id": "rs769369242", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769369242" }, { "id": "rs769369242", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769369242" } ], "glycoeffect": [], "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614414", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M452", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.432.432", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.434.434", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.437.437", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.441.441", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.443.443", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.444.444", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.445.445", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.446.446", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.449.449", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.450.450", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.451.451", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.455.455", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.456.456", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.457.457", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.460.460", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.462.462", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.464.464", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.465.465", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.466.466", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.470.470", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.471.471", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.472.472", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q92819-1.455.455", "start_pos": 455, "end_pos": 455, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1158760160", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1158760160", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1158760160", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1158760160", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "FMSLYSVLYMSSLLPAKMFA", "down_seq": "ATINKAGWGTSGRKTIVVNF", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "I", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614405", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "I455", "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" ] }, { "evidence": [ { "id": "rs1158760160", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1158760160" }, { "id": "rs1158760160", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1158760160" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614405", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I455", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.437.437", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.441.441", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.443.443", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.444.444", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.445.445", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.446.446", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.449.449", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.450.450", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.451.451", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.452.452", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.456.456", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.457.457", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.460.460", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.462.462", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.464.464", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.465.465", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.466.466", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.470.470", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.471.471", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.472.472", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.473.473", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.475.475", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q92819-1.456.456", "start_pos": 456, "end_pos": 456, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "MSLYSVLYMSSLLPAKMFAI", "down_seq": "TINKAGWGTSGRKTIVVNFI", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614402", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A456", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.437.437", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.441.441", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.443.443", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.444.444", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.445.445", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.446.446", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.449.449", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.450.450", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.451.451", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.452.452", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.455.455", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.457.457", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.460.460", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.462.462", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.464.464", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.465.465", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.466.466", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.470.470", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.471.471", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.472.472", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.473.473", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.475.475", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.476.476", "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": "Q92819-1.457.457", "start_pos": 457, "end_pos": 457, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SLYSVLYMSSLLPAKMFAIA", "down_seq": "INKAGWGTSGRKTIVVNFIG", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "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: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614398", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T457", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.437.437", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.441.441", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.443.443", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.444.444", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.445.445", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.446.446", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.449.449", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.450.450", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.451.451", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.452.452", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.455.455", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.456.456", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.460.460", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.462.462", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.464.464", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.465.465", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.466.466", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.470.470", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.471.471", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.472.472", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.473.473", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.475.475", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.476.476", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.477.477", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.45.45", "start_pos": 45, "end_pos": 45, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GITAAYIVGYQFIQTDNYYF", "down_seq": "FGLYGAFLASHLIIQSLFAF", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629207", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S45", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629208", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "S45", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.65.65", "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": 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": "Q92819-1.460.460", "start_pos": 460, "end_pos": 460, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs550153969", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs550153969", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs550153969", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs550153969", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs550153969", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs550153969", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs550153969", "url": "http://gnomad.broadinstitute.org/awesome?query=rs550153969", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "SVLYMSSLLPAKMFAIATIN", "down_seq": "AGWGTSGRKTIVVNFIGLIP", "snv": [ { "evidence": [ { "id": "rs550153969", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs550153969" }, { "id": "rs550153969", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs550153969" }, { "id": "rs550153969", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs550153969" }, { "id": "rs550153969", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs550153969" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614389", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "K460", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.441.441", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.443.443", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.444.444", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.445.445", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.446.446", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.449.449", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.450.450", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.451.451", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.452.452", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.455.455", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.456.456", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.457.457", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.462.462", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.464.464", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.465.465", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.466.466", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.470.470", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.471.471", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.472.472", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.473.473", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.475.475", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.476.476", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.477.477", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.480.480", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.462.462", "start_pos": 462, "end_pos": 462, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs751933866", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751933866", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs751933866", "url": "https://www.ensembl.org/id/rs751933866", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "LYMSSLLPAKMFAIATINKA", "down_seq": "WGTSGRKTIVVNFIGLIPVS", "snv": [ { "evidence": [ { "id": "rs751933866", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751933866" }, { "id": "rs751933866", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs751933866" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614383", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G462", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614384", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G462", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.443.443", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.444.444", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.445.445", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.446.446", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.449.449", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.450.450", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.451.451", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.452.452", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.455.455", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.456.456", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.457.457", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.460.460", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.464.464", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.465.465", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.466.466", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.470.470", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.471.471", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.472.472", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.473.473", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.475.475", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.476.476", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.477.477", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.480.480", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.481.481", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.482.482", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q92819-1.463.463", "start_pos": 463, "end_pos": 463, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1812675047", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812675047", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812675047", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812675047#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "YMSSLLPAKMFAIATINKAG", "down_seq": "GTSGRKTIVVNFIGLIPVSV", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614379", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "W463", "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" ] }, { "evidence": [ { "id": "rs1812675047", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812675047" }, { "id": "rs1812675047", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812675047#frequency_tab" } ], "glycoeffect": [], "sequence_org": "W", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614380", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W463", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.443.443", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.444.444", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.445.445", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.446.446", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.449.449", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.450.450", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.451.451", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.452.452", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.455.455", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.456.456", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.457.457", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.460.460", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.462.462", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.464.464", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.465.465", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.466.466", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.470.470", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.471.471", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.472.472", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.473.473", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.475.475", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.476.476", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.477.477", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.480.480", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.481.481", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.482.482", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.483.483", "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": 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": "Q92819-1.464.464", "start_pos": 464, "end_pos": 464, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1468860370", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1468860370", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1468860370", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1468860370", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "MSSLLPAKMFAIATINKAGW", "down_seq": "TSGRKTIVVNFIGLIPVSVW", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614377", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G464", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1468860370", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1468860370" }, { "id": "rs1468860370", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1468860370" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614378", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G464", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.444.444", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.445.445", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.446.446", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.449.449", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.450.450", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.451.451", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.452.452", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.455.455", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.456.456", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.457.457", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.460.460", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.462.462", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.465.465", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.466.466", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.470.470", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.471.471", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.472.472", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.473.473", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.475.475", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.476.476", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.477.477", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.480.480", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.481.481", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.482.482", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.483.483", "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": 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": "Q92819-1.465.465", "start_pos": 465, "end_pos": 465, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs112359944", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs112359944", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs112359944", "url": "https://www.ensembl.org/id/rs112359944", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SSLLPAKMFAIATINKAGWG", "down_seq": "SGRKTIVVNFIGLIPVSVWF", "snv": [ { "evidence": [ { "id": "rs112359944", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs112359944" }, { "id": "rs112359944", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs112359944" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614375", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T465", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.445.445", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.446.446", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.449.449", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.450.450", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.451.451", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.452.452", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.455.455", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.456.456", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.457.457", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.460.460", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.462.462", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.464.464", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.466.466", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.470.470", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.471.471", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.472.472", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.473.473", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.475.475", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.476.476", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.477.477", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.480.480", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.481.481", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.482.482", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.483.483", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.466.466", "start_pos": 466, "end_pos": 466, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SLLPAKMFAIATINKAGWGT", "down_seq": "GRKTIVVNFIGLIPVSVWFT", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614372", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "S466", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.446.446", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.449.449", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.450.450", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.451.451", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.452.452", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.455.455", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.456.456", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.457.457", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.460.460", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.462.462", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.464.464", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.465.465", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.470.470", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.471.471", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.472.472", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.473.473", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.475.475", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.476.476", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.477.477", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.480.480", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.481.481", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.482.482", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.483.483", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.486.486", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.468.468", "start_pos": 468, "end_pos": 468, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2130430278", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2130430278", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2130430278", "url": "https://www.ensembl.org/id/rs2130430278", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LPAKMFAIATINKAGWGTSG", "down_seq": "KTIVVNFIGLIPVSVWFTIL", "snv": [ { "evidence": [ { "id": "rs2130430278", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2130430278" }, { "id": "rs2130430278", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2130430278" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614366", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R468", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "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, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614365", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R468", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.449.449", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.450.450", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.451.451", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.452.452", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.455.455", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.456.456", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.457.457", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.460.460", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.462.462", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.464.464", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.465.465", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.466.466", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.470.470", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.471.471", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.472.472", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.473.473", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.475.475", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.476.476", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.477.477", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.480.480", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.481.481", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.482.482", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.483.483", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.486.486", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.487.487", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.488.488", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q92819-1.470.470", "start_pos": 470, "end_pos": 470, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs55973605", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs55973605", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs55973605", "url": "https://www.ensembl.org/id/rs55973605", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "AKMFAIATINKAGWGTSGRK", "down_seq": "IVVNFIGLIPVSVWFTILLG", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "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, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614360", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T470", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "id": "rs55973605", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs55973605" }, { "id": "rs55973605", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs55973605" } ], "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, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614359", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T470", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614360", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "T470", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.450.450", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.451.451", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.452.452", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.455.455", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.456.456", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.457.457", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.460.460", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.462.462", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.464.464", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.465.465", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.466.466", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.471.471", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.472.472", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.473.473", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.475.475", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.476.476", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.477.477", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.480.480", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.481.481", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.482.482", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.483.483", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.486.486", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.487.487", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.488.488", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": 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_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.471.471", "start_pos": 471, "end_pos": 471, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1252292710", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1252292710", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1252292710", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1252292710", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "KMFAIATINKAGWGTSGRKT", "down_seq": "VVNFIGLIPVSVWFTILLGG", "snv": [ { "evidence": [ { "id": "rs1252292710", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1252292710" }, { "id": "rs1252292710", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1252292710" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614357", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I471", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.451.451", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.452.452", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.455.455", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.456.456", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.457.457", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.460.460", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.462.462", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.464.464", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.465.465", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.466.466", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.470.470", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.472.472", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.473.473", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.475.475", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.476.476", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.477.477", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.480.480", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.481.481", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.482.482", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.483.483", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.486.486", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.487.487", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.491.491", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.472.472", "start_pos": 472, "end_pos": 472, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs753170315", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753170315", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs753170315", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753170315", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs753170315", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753170315#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs753170315", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753170315", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "MFAIATINKAGWGTSGRKTI", "down_seq": "VNFIGLIPVSVWFTILLGGV", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "id": "rs753170315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753170315" }, { "id": "rs753170315", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753170315" }, { "id": "rs753170315", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753170315#frequency_tab" }, { "id": "rs753170315", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753170315" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614354", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V472", "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": "rs753170315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753170315" }, { "id": "rs753170315", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753170315" }, { "id": "rs753170315", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753170315#frequency_tab" }, { "id": "rs753170315", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753170315" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614354", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V472", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.452.452", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.455.455", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.456.456", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.457.457", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.460.460", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.462.462", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.464.464", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.465.465", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.466.466", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.470.470", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.471.471", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.473.473", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.475.475", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.476.476", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.477.477", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.480.480", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.481.481", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.482.482", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.483.483", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.486.486", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.487.487", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.491.491", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.492.492", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q92819-1.473.473", "start_pos": 473, "end_pos": 473, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs779209146", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779209146", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs779209146", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779209146", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs779209146", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779209146#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs779209146", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779209146", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1233888845", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1233888845", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1233888845", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1233888845#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1233888845", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1233888845", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "FAIATINKAGWGTSGRKTIV", "down_seq": "NFIGLIPVSVWFTILLGGVI", "snv": [ { "evidence": [ { "id": "rs779209146", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779209146" }, { "id": "rs779209146", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779209146" }, { "id": "rs779209146", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779209146#frequency_tab" }, { "id": "rs779209146", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779209146" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614350", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V473", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1233888845", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1233888845" }, { "id": "rs1233888845", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1233888845#frequency_tab" }, { "id": "rs1233888845", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1233888845" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614351", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V473", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q92819-1.455.455", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.456.456", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.457.457", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.460.460", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.462.462", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.464.464", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.465.465", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.466.466", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.470.470", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.471.471", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.472.472", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.475.475", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.476.476", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.477.477", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.480.480", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.481.481", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.482.482", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.483.483", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.486.486", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.487.487", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.491.491", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.493.493", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q92819-1.475.475", "start_pos": 475, "end_pos": 475, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "IATINKAGWGTSGRKTIVVN", "down_seq": "IGLIPVSVWFTILLGGVIFT", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "F", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614343", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "F475", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.455.455", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.456.456", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.457.457", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.460.460", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.462.462", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.464.464", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.465.465", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.466.466", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.470.470", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.471.471", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.472.472", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.473.473", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.476.476", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.477.477", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.480.480", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.481.481", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.482.482", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.483.483", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.486.486", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.487.487", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.491.491", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.493.493", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.477.477", "start_pos": 477, "end_pos": 477, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "TINKAGWGTSGRKTIVVNFI", "down_seq": "LIPVSVWFTILLGGVIFTIY", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614339", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G477", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "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, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614339", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G477", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.457.457", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.460.460", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.462.462", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.464.464", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.465.465", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.466.466", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.470.470", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.471.471", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.472.472", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.473.473", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.475.475", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.476.476", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.480.480", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.481.481", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.482.482", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.483.483", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.486.486", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.487.487", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.491.491", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.497.497", "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": 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": "Q92819-1.480.480", "start_pos": 480, "end_pos": 480, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "KAGWGTSGRKTIVVNFIGLI", "down_seq": "VSVWFTILLGGVIFTIYKES", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "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, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614329", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P480", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "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, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614330", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P480", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.460.460", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.462.462", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.464.464", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.465.465", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.466.466", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.470.470", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.471.471", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.472.472", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.473.473", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.475.475", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.476.476", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.477.477", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.481.481", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.482.482", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.483.483", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.486.486", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.487.487", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.491.491", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.497.497", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.499.499", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q92819-1.481.481", "start_pos": 481, "end_pos": 481, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs760952242", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760952242", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs760952242", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760952242", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs760952242", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760952242", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "AGWGTSGRKTIVVNFIGLIP", "down_seq": "SVWFTILLGGVIFTIYKESK", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "id": "rs760952242", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760952242" }, { "id": "rs760952242", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760952242" }, { "id": "rs760952242", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760952242" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614327", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V481", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.462.462", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.464.464", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.465.465", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.466.466", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.470.470", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.471.471", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.472.472", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.473.473", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.475.475", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.476.476", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.477.477", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.480.480", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.482.482", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.483.483", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.486.486", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.487.487", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.491.491", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.497.497", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.501.501", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.482.482", "start_pos": 482, "end_pos": 482, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1220033445", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1220033445", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1220033445", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1220033445#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1220033445", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1220033445", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GWGTSGRKTIVVNFIGLIPV", "down_seq": "VWFTILLGGVIFTIYKESKR", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "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: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614323", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S482", "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": "rs1220033445", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1220033445" }, { "id": "rs1220033445", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1220033445#frequency_tab" }, { "id": "rs1220033445", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1220033445" } ], "glycoeffect": [], "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614324", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S482", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.462.462", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.464.464", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.465.465", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.466.466", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.470.470", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.471.471", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.472.472", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.473.473", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.475.475", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.476.476", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.477.477", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.480.480", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.481.481", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.483.483", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.486.486", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.487.487", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.491.491", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.497.497", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.501.501", "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": 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": "Q92819-1.483.483", "start_pos": 483, "end_pos": 483, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "WGTSGRKTIVVNFIGLIPVS", "down_seq": "WFTILLGGVIFTIYKESKRP", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614321", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V483", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.464.464", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.465.465", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.466.466", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.470.470", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.471.471", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.472.472", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.473.473", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.475.475", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.476.476", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.477.477", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.480.480", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.481.481", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.482.482", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.486.486", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.487.487", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.491.491", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.497.497", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.503.503", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.486.486", "start_pos": 486, "end_pos": 486, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs750484583", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750484583", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs750484583", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750484583", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs750484583", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750484583", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SGRKTIVVNFIGLIPVSVWF", "down_seq": "ILLGGVIFTIYKESKRPFSE", "snv": [ { "evidence": [ { "id": "rs750484583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750484583" }, { "id": "rs750484583", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750484583" }, { "id": "rs750484583", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750484583" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614311", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T486", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.466.466", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.470.470", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.471.471", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.472.472", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.473.473", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.475.475", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.476.476", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.477.477", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.480.480", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.481.481", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.482.482", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.483.483", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.487.487", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.491.491", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.497.497", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.503.503", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.505.505", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.487.487", "start_pos": 487, "end_pos": 487, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs767542853", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767542853", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs767542853", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767542853", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs767542853", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767542853", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "GRKTIVVNFIGLIPVSVWFT", "down_seq": "LLGGVIFTIYKESKRPFSES", "snv": [ { "evidence": [ { "id": "rs767542853", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767542853" }, { "id": "rs767542853", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767542853" }, { "id": "rs767542853", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767542853" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614309", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I487", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.470.470", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.471.471", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.472.472", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.473.473", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.475.475", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.476.476", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.477.477", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.480.480", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.481.481", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.482.482", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.483.483", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.486.486", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.491.491", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.497.497", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.503.503", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.505.505", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.488.488", "start_pos": 488, "end_pos": 488, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "RKTIVVNFIGLIPVSVWFTI", "down_seq": "LGGVIFTIYKESKRPFSESK", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614306", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "L488", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.470.470", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.471.471", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.472.472", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.473.473", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.475.475", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.476.476", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.477.477", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.480.480", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.481.481", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.482.482", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.483.483", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.486.486", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.487.487", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.491.491", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.497.497", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.503.503", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.505.505", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.508.508", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.48.48", "start_pos": 48, "end_pos": 48, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "AAYIVGYQFIQTDNYYFSFG", "down_seq": "YGAFLASHLIIQSLFAFLEH", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629198", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L48", "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: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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.67.67", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.491.491", "start_pos": 491, "end_pos": 491, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "IVVNFIGLIPVSVWFTILLG", "down_seq": "VIFTIYKESKRPFSESKQTV", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614297", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G491", "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: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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.471.471", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.472.472", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.473.473", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.475.475", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.476.476", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.477.477", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.480.480", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.481.481", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.482.482", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.483.483", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.486.486", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.487.487", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.497.497", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.503.503", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.505.505", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.508.508", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.510.510", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.511.511", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.492.492", "start_pos": 492, "end_pos": 492, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs774183299", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774183299", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs774183299", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774183299", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs774183299", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774183299#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs774183299", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774183299", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "VVNFIGLIPVSVWFTILLGG", "down_seq": "IFTIYKESKRPFSESKQTVL", "snv": [ { "evidence": [ { "id": "rs774183299", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774183299" }, { "id": "rs774183299", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774183299" }, { "id": "rs774183299", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774183299#frequency_tab" }, { "id": "rs774183299", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774183299" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614294", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V492", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.472.472", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.473.473", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.475.475", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.476.476", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.477.477", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.480.480", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.481.481", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.482.482", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.483.483", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.486.486", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.487.487", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.491.491", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.497.497", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.503.503", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.505.505", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.508.508", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.510.510", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.512.512", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.493.493", "start_pos": 493, "end_pos": 493, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs762852815", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762852815", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs762852815", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762852815", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs762852815", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762852815", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "VNFIGLIPVSVWFTILLGGV", "down_seq": "FTIYKESKRPFSESKQTVLI", "snv": [ { "evidence": [ { "id": "rs762852815", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762852815" }, { "id": "rs762852815", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762852815" }, { "id": "rs762852815", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762852815" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614291", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I493", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.473.473", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.475.475", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.476.476", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.477.477", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.480.480", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.481.481", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.482.482", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.483.483", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.486.486", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.487.487", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.491.491", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.497.497", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.503.503", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.505.505", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.508.508", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.510.510", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.512.512", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.513.513", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.496.496", "start_pos": 496, "end_pos": 496, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1194127423", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1194127423", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1194127423", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1194127423#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1194127423", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1194127423", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "IGLIPVSVWFTILLGGVIFT", "down_seq": "YKESKRPFSESKQTVLIVGT", "snv": [ { "evidence": [ { "id": "rs1194127423", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1194127423" }, { "id": "rs1194127423", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1194127423#frequency_tab" }, { "id": "rs1194127423", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1194127423" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614282", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I496", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.476.476", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.477.477", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.480.480", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.481.481", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.482.482", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.483.483", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.486.486", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.487.487", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.491.491", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.497.497", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.503.503", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.505.505", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.508.508", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.510.510", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.512.512", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.513.513", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.516.516", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.497.497", "start_pos": 497, "end_pos": 497, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs367570151", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367570151", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs367570151", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367570151", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs367570151", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367570151#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs367570151", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367570151", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "GLIPVSVWFTILLGGVIFTI", "down_seq": "KESKRPFSESKQTVLIVGTL", "snv": [ { "evidence": [ { "id": "rs367570151", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367570151" }, { "id": "rs367570151", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367570151" }, { "id": "rs367570151", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367570151#frequency_tab" }, { "id": "rs367570151", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367570151" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614278", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y497", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs367570151", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367570151" }, { "id": "rs367570151", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367570151" }, { "id": "rs367570151", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367570151#frequency_tab" }, { "id": "rs367570151", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367570151" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614278", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y497", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs367570151", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367570151" }, { "id": "rs367570151", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367570151" }, { "id": "rs367570151", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367570151#frequency_tab" }, { "id": "rs367570151", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367570151" } ], "glycoeffect": [], "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614278", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y497", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.477.477", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.480.480", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.481.481", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.482.482", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.483.483", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.486.486", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.487.487", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.491.491", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.503.503", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.505.505", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.508.508", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.510.510", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.512.512", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.513.513", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.516.516", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q92819-1.498.498", "start_pos": 498, "end_pos": 498, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs561838284", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs561838284", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs561838284", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs561838284", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs561838284", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs561838284", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs561838284", "url": "https://www.ncbi.nlm.nih.gov/snp/rs561838284#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs561838284", "url": "http://gnomad.broadinstitute.org/awesome?query=rs561838284", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LIPVSVWFTILLGGVIFTIY", "down_seq": "ESKRPFSESKQTVLIVGTLL", "snv": [ { "evidence": [ { "id": "rs561838284", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs561838284" }, { "id": "rs561838284", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs561838284" }, { "id": "rs561838284", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs561838284" }, { "id": "rs561838284", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs561838284#frequency_tab" }, { "id": "rs561838284", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs561838284" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614276", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "K498", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q92819-1.480.480", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.481.481", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.482.482", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.483.483", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.486.486", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.487.487", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.491.491", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.497.497", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.503.503", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.505.505", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.508.508", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.510.510", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.512.512", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.513.513", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.518.518", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.499.499", "start_pos": 499, "end_pos": 499, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs770378716", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770378716", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs770378716", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770378716", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs770378716", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770378716", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "IPVSVWFTILLGGVIFTIYK", "down_seq": "SKRPFSESKQTVLIVGTLLY", "snv": [ { "evidence": [ { "id": "rs770378716", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770378716" }, { "id": "rs770378716", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770378716" }, { "id": "rs770378716", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770378716" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614272", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E499", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "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, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614273", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E499", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.480.480", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.481.481", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.482.482", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.483.483", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.486.486", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.487.487", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.491.491", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.497.497", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.503.503", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.505.505", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.508.508", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.510.510", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.512.512", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.513.513", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.519.519", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q92819-1.4.4", "start_pos": 4, "end_pos": 4, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1193218981", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1193218981", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1193218981", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1193218981", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "MHC", "down_seq": "RFLCILRIIGTTLFGVSLLL", "snv": [ { "evidence": [ { "id": "rs1193218981", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1193218981" }, { "id": "rs1193218981", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1193218981" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629330", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E4", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q92819-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.24.24", "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": "Q92819-1.501.501", "start_pos": 501, "end_pos": 501, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1812673401", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812673401", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812673401", "url": "https://www.ensembl.org/id/rs1812673401", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs748621892", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748621892", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748621892", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748621892", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748621892", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748621892#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs748621892", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748621892", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "VSVWFTILLGGVIFTIYKES", "down_seq": "RPFSESKQTVLIVGTLLYAC", "snv": [ { "evidence": [ { "id": "rs1812673401", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812673401" }, { "id": "rs1812673401", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1812673401" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614265", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K501", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748621892", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748621892" }, { "id": "rs748621892", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748621892" }, { "id": "rs748621892", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748621892#frequency_tab" }, { "id": "rs748621892", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748621892" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614266", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K501", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "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, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614266", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K501", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.481.481", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.482.482", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.483.483", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.486.486", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.487.487", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.491.491", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.497.497", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.503.503", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.505.505", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.508.508", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.510.510", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.512.512", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.513.513", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.519.519", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q92819-1.503.503", "start_pos": 503, "end_pos": 503, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs779407431", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779407431", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs779407431", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779407431", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs779407431", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779407431#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs779407431", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779407431", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "VWFTILLGGVIFTIYKESKR", "down_seq": "FSESKQTVLIVGTLLYACYW", "snv": [ { "evidence": [ { "id": "rs779407431", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779407431" }, { "id": "rs779407431", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779407431" }, { "id": "rs779407431", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779407431#frequency_tab" }, { "id": "rs779407431", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779407431" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614260", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P503", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.483.483", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.486.486", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.487.487", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.491.491", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.497.497", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.505.505", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.508.508", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.510.510", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.512.512", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.513.513", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.523.523", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.505.505", "start_pos": 505, "end_pos": 505, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "FTILLGGVIFTIYKESKRPF", "down_seq": "ESKQTVLIVGTLLYACYWVM", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614254", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S505", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.486.486", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.487.487", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.491.491", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.497.497", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.503.503", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.508.508", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.510.510", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.512.512", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.513.513", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.524.524", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.525.525", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.508.508", "start_pos": 508, "end_pos": 508, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1812673214", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812673214", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812673214", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812673214#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1812673214", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1812673214", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LLGGVIFTIYKESKRPFSES", "down_seq": "QTVLIVGTLLYACYWVMLLT", "snv": [ { "evidence": [ { "id": "rs1812673214", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812673214" }, { "id": "rs1812673214", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812673214#frequency_tab" }, { "id": "rs1812673214", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1812673214" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614245", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K508", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1812673214", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812673214" }, { "id": "rs1812673214", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812673214#frequency_tab" }, { "id": "rs1812673214", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1812673214" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614245", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K508", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.488.488", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.491.491", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.497.497", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.503.503", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.505.505", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.510.510", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.512.512", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.513.513", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.524.524", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.525.525", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.528.528", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q92819-1.509.509", "start_pos": 509, "end_pos": 509, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1282727495", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1282727495", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1282727495", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1282727495", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "LGGVIFTIYKESKRPFSESK", "down_seq": "TVLIVGTLLYACYWVMLLTL", "snv": [ { "evidence": [ { "id": "rs1282727495", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1282727495" }, { "id": "rs1282727495", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1282727495" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614242", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q509", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q92819-1.491.491", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.497.497", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.503.503", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.505.505", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.508.508", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.510.510", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.512.512", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.513.513", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.524.524", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.525.525", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.528.528", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.529.529", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.510.510", "start_pos": 510, "end_pos": 510, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1235184571", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1235184571", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1235184571", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1235184571", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GGVIFTIYKESKRPFSESKQ", "down_seq": "VLIVGTLLYACYWVMLLTLY", "snv": [ { "evidence": [ { "id": "rs1235184571", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1235184571" }, { "id": "rs1235184571", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1235184571" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614240", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T510", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.491.491", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.497.497", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.503.503", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.505.505", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.508.508", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.512.512", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.513.513", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.524.524", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.525.525", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.528.528", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.530.530", "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": "Q92819-1.511.511", "start_pos": 511, "end_pos": 511, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1056563570", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1056563570", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1056563570", "url": "https://www.ensembl.org/id/rs1056563570", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs780435873", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780435873", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs780435873", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780435873", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs780435873", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780435873", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "GVIFTIYKESKRPFSESKQT", "down_seq": "LIVGTLLYACYWVMLLTLYV", "snv": [ { "evidence": [ { "id": "rs1056563570", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1056563570" }, { "id": "rs1056563570", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1056563570" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614236", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V511", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780435873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780435873" }, { "id": "rs780435873", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780435873" }, { "id": "rs780435873", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780435873" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614237", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V511", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780435873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780435873" }, { "id": "rs780435873", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780435873" }, { "id": "rs780435873", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780435873" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614237", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V511", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.491.491", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.497.497", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.503.503", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.505.505", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.508.508", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.510.510", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.512.512", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.513.513", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.524.524", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.525.525", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.528.528", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.531.531", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q92819-1.512.512", "start_pos": 512, "end_pos": 512, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "VIFTIYKESKRPFSESKQTV", "down_seq": "IVGTLLYACYWVMLLTLYVV", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614234", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L512", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614233", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L512", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614234", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "L512", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.492.492", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.497.497", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.503.503", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.505.505", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.508.508", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.510.510", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.513.513", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.524.524", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.525.525", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.528.528", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.531.531", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": 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_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.513.513", "start_pos": 513, "end_pos": 513, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs756336783", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756336783", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs756336783", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756336783", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs756336783", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756336783", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "IFTIYKESKRPFSESKQTVL", "down_seq": "VGTLLYACYWVMLLTLYVVL", "snv": [ { "evidence": [ { "id": "rs756336783", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756336783" }, { "id": "rs756336783", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756336783" }, { "id": "rs756336783", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756336783" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614230", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I513", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.497.497", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.503.503", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.505.505", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.508.508", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.510.510", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.512.512", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.524.524", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.525.525", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.528.528", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.533.533", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.514.514", "start_pos": 514, "end_pos": 514, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1812672888", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812672888", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812672888", "url": "https://www.ensembl.org/id/rs1812672888", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "FTIYKESKRPFSESKQTVLI", "down_seq": "GTLLYACYWVMLLTLYVVLI", "snv": [ { "evidence": [ { "id": "rs1812672888", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812672888" }, { "id": "rs1812672888", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1812672888" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614227", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V514", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q92819-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.497.497", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.503.503", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.505.505", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.508.508", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.510.510", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.512.512", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.513.513", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.524.524", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.525.525", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.528.528", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.533.533", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.534.534", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.516.516", "start_pos": 516, "end_pos": 516, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1812672805", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812672805", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812672805", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812672805#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "IYKESKRPFSESKQTVLIVG", "down_seq": "LLYACYWVMLLTLYVVLINK", "snv": [ { "evidence": [ { "id": "rs1812672805", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812672805" }, { "id": "rs1812672805", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812672805#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614221", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T516", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.496.496", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.497.497", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.503.503", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.505.505", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.508.508", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.510.510", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.512.512", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.513.513", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.524.524", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.525.525", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.528.528", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.533.533", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.534.534", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.536.536", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.518.518", "start_pos": 518, "end_pos": 518, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs750632870", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750632870", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs750632870", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750632870", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs750632870", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750632870", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "KESKRPFSESKQTVLIVGTL", "down_seq": "YACYWVMLLTLYVVLINKCG", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "id": "rs750632870", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750632870" }, { "id": "rs750632870", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750632870" }, { "id": "rs750632870", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750632870" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614216", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L518", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614216", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L518", "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": "rs750632870", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750632870" }, { "id": "rs750632870", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750632870" }, { "id": "rs750632870", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750632870" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614216", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L518", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.503.503", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.505.505", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.508.508", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.510.510", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.512.512", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.513.513", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.524.524", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.525.525", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.528.528", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.533.533", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.534.534", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.538.538", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.519.519", "start_pos": 519, "end_pos": 519, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1372480161", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1372480161", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1372480161", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1372480161#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1372480161", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1372480161", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "ESKRPFSESKQTVLIVGTLL", "down_seq": "ACYWVMLLTLYVVLINKCGR", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "id": "rs1372480161", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1372480161" }, { "id": "rs1372480161", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1372480161#frequency_tab" }, { "id": "rs1372480161", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1372480161" } ], "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: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614212", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Y519", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614213", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Y519", "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" ] }, { "evidence": [ { "id": "rs1372480161", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1372480161" }, { "id": "rs1372480161", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1372480161#frequency_tab" }, { "id": "rs1372480161", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1372480161" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614212", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y519", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.503.503", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.505.505", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.508.508", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.510.510", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.512.512", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.513.513", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.524.524", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.525.525", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.528.528", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.533.533", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.534.534", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.539.539", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q92819-1.51.51", "start_pos": 51, "end_pos": 51, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs780998853", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780998853", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs780998853", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780998853", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs780998853", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780998853#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs780998853", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780998853", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs745480940", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745480940", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs745480940", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745480940", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs745480940", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745480940#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs745480940", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745480940", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "IVGYQFIQTDNYYFSFGLYG", "down_seq": "FLASHLIIQSLFAFLEHRKM", "snv": [ { "evidence": [ { "id": "rs780998853", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780998853" }, { "id": "rs780998853", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780998853" }, { "id": "rs780998853", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780998853#frequency_tab" }, { "id": "rs780998853", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780998853" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629189", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A51", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780998853", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780998853" }, { "id": "rs780998853", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780998853" }, { "id": "rs780998853", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780998853#frequency_tab" }, { "id": "rs780998853", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780998853" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629189", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A51", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs745480940", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745480940" }, { "id": "rs745480940", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745480940" }, { "id": "rs745480940", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745480940#frequency_tab" }, { "id": "rs745480940", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745480940" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629190", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A51", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780998853", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780998853" }, { "id": "rs780998853", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780998853" }, { "id": "rs780998853", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780998853#frequency_tab" }, { "id": "rs780998853", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780998853" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629189", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A51", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.71.71", "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": 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": "Q92819-1.522.522", "start_pos": 522, "end_pos": 522, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs757285235", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757285235", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs757285235", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757285235", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs757285235", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757285235#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs757285235", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757285235", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "RPFSESKQTVLIVGTLLYAC", "down_seq": "WVMLLTLYVVLINKCGRRKK", "snv": [ { "evidence": [ { "id": "rs757285235", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757285235" }, { "id": "rs757285235", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757285235" }, { "id": "rs757285235", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757285235#frequency_tab" }, { "id": "rs757285235", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757285235" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614203", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y522", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.503.503", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.505.505", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.508.508", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.510.510", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.512.512", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.513.513", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.524.524", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.525.525", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.528.528", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.533.533", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.534.534", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.539.539", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.540.540", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.542.542", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.523.523", "start_pos": 523, "end_pos": 523, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "PFSESKQTVLIVGTLLYACY", "down_seq": "VMLLTLYVVLINKCGRRKKG", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614200", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "W523", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.503.503", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.505.505", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.508.508", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.510.510", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.512.512", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.513.513", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.524.524", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.525.525", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.528.528", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.533.533", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.534.534", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.539.539", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.540.540", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.542.542", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.543.543", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.524.524", "start_pos": 524, "end_pos": 524, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs751453532", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751453532", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs751453532", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751453532", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs751453532", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751453532#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs751453532", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751453532", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "FSESKQTVLIVGTLLYACYW", "down_seq": "MLLTLYVVLINKCGRRKKGQ", "snv": [ { "evidence": [ { "id": "rs751453532", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751453532" }, { "id": "rs751453532", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751453532" }, { "id": "rs751453532", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751453532#frequency_tab" }, { "id": "rs751453532", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751453532" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614198", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V524", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.505.505", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.508.508", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.510.510", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.512.512", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.513.513", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.525.525", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.528.528", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.533.533", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.534.534", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.539.539", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.540.540", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.542.542", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.544.544", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.525.525", "start_pos": 525, "end_pos": 525, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1812672405", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812672405", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812672405", "url": "https://www.ensembl.org/id/rs1812672405", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1434842237", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1434842237", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1434842237", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1434842237", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "SESKQTVLIVGTLLYACYWV", "down_seq": "LLTLYVVLINKCGRRKKGQQ", "snv": [ { "evidence": [ { "id": "rs1812672405", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812672405" }, { "id": "rs1812672405", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1812672405" } ], "glycoeffect": [], "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614193", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M525", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1434842237", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1434842237" }, { "id": "rs1434842237", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1434842237" } ], "glycoeffect": [], "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614194", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M525", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614195", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "M525", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.505.505", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.508.508", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.510.510", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.512.512", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.513.513", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.524.524", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.528.528", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.533.533", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.534.534", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.539.539", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.540.540", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.542.542", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.544.544", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q92819-1.526.526", "start_pos": 526, "end_pos": 526, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1812672369", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812672369", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812672369", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812672369#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "ESKQTVLIVGTLLYACYWVM", "down_seq": "LTLYVVLINKCGRRKKGQQY", "snv": [ { "evidence": [ { "id": "rs1812672369", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812672369" }, { "id": "rs1812672369", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812672369#frequency_tab" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614192", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L526", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614191", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L526", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q92819-1.508.508", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.510.510", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.512.512", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.513.513", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.524.524", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.525.525", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.528.528", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.533.533", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.534.534", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.539.539", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.540.540", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.542.542", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.546.546", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "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": "Q92819-1.528.528", "start_pos": 528, "end_pos": 528, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs764107265", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764107265", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs764107265", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764107265", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs764107265", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764107265#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs764107265", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764107265", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KQTVLIVGTLLYACYWVMLL", "down_seq": "LYVVLINKCGRRKKGQQYDM", "snv": [ { "evidence": [ { "id": "rs764107265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764107265" }, { "id": "rs764107265", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764107265" }, { "id": "rs764107265", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764107265#frequency_tab" }, { "id": "rs764107265", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764107265" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614185", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T528", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.508.508", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.510.510", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.512.512", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.513.513", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.524.524", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.525.525", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.533.533", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.534.534", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.539.539", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.540.540", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.542.542", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.547.547", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.529.529", "start_pos": 529, "end_pos": 529, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "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": "QTVLIVGTLLYACYWVMLLT", "down_seq": "YVVLINKCGRRKKGQQYDMV", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "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": "L", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614183", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L529", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614182", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L529", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.510.510", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.512.512", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.513.513", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.524.524", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.525.525", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.528.528", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.533.533", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.534.534", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.539.539", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.540.540", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.542.542", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.549.549", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q92819-1.52.52", "start_pos": 52, "end_pos": 52, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs200191918", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200191918", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs200191918", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200191918", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs200191918", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200191918", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs200191918", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200191918#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs200191918", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200191918", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "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": "F", "start_aa": "F", "up_seq": "VGYQFIQTDNYYFSFGLYGA", "down_seq": "LASHLIIQSLFAFLEHRKMK", "snv": [ { "evidence": [ { "id": "rs200191918", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200191918" }, { "id": "rs200191918", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200191918" }, { "id": "rs200191918", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200191918" }, { "id": "rs200191918", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200191918#frequency_tab" }, { "id": "rs200191918", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200191918" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629186", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "F52", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "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": "F", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629187", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "F52", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q92819-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.72.72", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.530.530", "start_pos": 530, "end_pos": 530, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs775403905", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775403905", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs775403905", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775403905", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs775403905", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775403905", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "TVLIVGTLLYACYWVMLLTL", "down_seq": "VVLINKCGRRKKGQQYDMVL", "snv": [ { "evidence": [ { "id": "rs775403905", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775403905" }, { "id": "rs775403905", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775403905" }, { "id": "rs775403905", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775403905" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614178", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y530", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.510.510", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.512.512", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.513.513", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.524.524", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.525.525", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.528.528", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.533.533", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.534.534", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.539.539", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.540.540", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.542.542", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.549.549", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.550.550", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.531.531", "start_pos": 531, "end_pos": 531, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1563619064", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1563619064", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1563619064", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1563619064", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "VLIVGTLLYACYWVMLLTLY", "down_seq": "VLINKCGRRKKGQQYDMVLD", "snv": [ { "evidence": [ { "id": "rs1563619064", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1563619064" }, { "id": "rs1563619064", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1563619064" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614177", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V531", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.512.512", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.513.513", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.524.524", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.525.525", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.528.528", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.533.533", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.534.534", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.539.539", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.540.540", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.542.542", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.549.549", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.550.550", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.551.551", "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": "Q92819-1.533.533", "start_pos": 533, "end_pos": 533, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1420139135", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1420139135", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1420139135", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1420139135#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1420139135", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1420139135", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "IVGTLLYACYWVMLLTLYVV", "down_seq": "INKCGRRKKGQQYDMVLDV", "snv": [ { "evidence": [ { "id": "rs1420139135", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1420139135" }, { "id": "rs1420139135", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1420139135#frequency_tab" }, { "id": "rs1420139135", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1420139135" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614171", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L533", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "3", "frequency": "0.2", "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614170", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L533", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.513.513", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.524.524", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.525.525", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.528.528", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.534.534", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.539.539", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.540.540", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.542.542", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.549.549", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.550.550", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.551.551", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "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": "Q92819-1.534.534", "start_pos": 534, "end_pos": 534, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "VGTLLYACYWVMLLTLYVVL", "down_seq": "NKCGRRKKGQQYDMVLDV", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614167", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "I534", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.524.524", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.525.525", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.528.528", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.533.533", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.539.539", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.540.540", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.542.542", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.549.549", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.550.550", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.551.551", "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": "Q92819-1.535.535", "start_pos": 535, "end_pos": 535, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs759188639", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759188639", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs759188639", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759188639", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs759188639", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759188639#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs759188639", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759188639", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs149828758", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149828758", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs149828758", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149828758", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs149828758", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149828758", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs149828758", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149828758#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs149828758", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149828758", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1812672021", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812672021", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812672021", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812672021#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "GTLLYACYWVMLLTLYVVLI", "down_seq": "KCGRRKKGQQYDMVLDV", "snv": [ { "evidence": [ { "id": "rs759188639", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759188639" }, { "id": "rs759188639", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759188639" }, { "id": "rs759188639", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759188639#frequency_tab" }, { "id": "rs759188639", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759188639" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614163", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N535", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "id": "rs149828758", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149828758" }, { "id": "rs149828758", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149828758" }, { "id": "rs149828758", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149828758" }, { "id": "rs149828758", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149828758#frequency_tab" }, { "id": "rs149828758", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149828758" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614164", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N535", "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" ] }, { "evidence": [ { "id": "rs1812672021", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812672021" }, { "id": "rs1812672021", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812672021#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614165", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N535", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.524.524", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.525.525", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.528.528", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.533.533", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.534.534", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.539.539", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.540.540", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.542.542", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.549.549", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.550.550", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.551.551", "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": 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": "Q92819-1.536.536", "start_pos": 536, "end_pos": 536, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "TLLYACYWVMLLTLYVVLIN", "down_seq": "CGRRKKGQQYDMVLDV", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614162", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K536", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614161", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K536", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.516.516", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.524.524", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.525.525", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.528.528", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.533.533", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.534.534", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.539.539", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.540.540", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.542.542", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.549.549", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.550.550", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.551.551", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.537.537", "start_pos": 537, "end_pos": 537, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1468922652", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1468922652", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1468922652", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1468922652#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "LLYACYWVMLLTLYVVLINK", "down_seq": "GRRKKGQQYDMVLDV", "snv": [ { "evidence": [ { "id": "rs1468922652", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1468922652" }, { "id": "rs1468922652", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1468922652#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614159", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C537", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1468922652", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1468922652" }, { "id": "rs1468922652", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1468922652#frequency_tab" } ], "glycoeffect": [], "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614159", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C537", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.524.524", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.525.525", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.528.528", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.533.533", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.534.534", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.539.539", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.540.540", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.542.542", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.549.549", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.550.550", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.551.551", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "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": "Q92819-1.538.538", "start_pos": 538, "end_pos": 538, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs776157222", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776157222", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs776157222", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776157222", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs776157222", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776157222", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "LYACYWVMLLTLYVVLINKC", "down_seq": "RRKKGQQYDMVLDV", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614156", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G538", "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" ] }, { "evidence": [ { "id": "rs776157222", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776157222" }, { "id": "rs776157222", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776157222" }, { "id": "rs776157222", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776157222" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614155", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G538", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.518.518", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.524.524", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.525.525", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.528.528", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.533.533", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.534.534", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.539.539", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.540.540", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.542.542", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.549.549", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.550.550", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.551.551", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "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": "Q92819-1.539.539", "start_pos": 539, "end_pos": 539, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1483022877", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1483022877", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1483022877", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1483022877", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YACYWVMLLTLYVVLINKCG", "down_seq": "RKKGQQYDMVLDV", "snv": [ { "evidence": [ { "id": "rs1483022877", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1483022877" }, { "id": "rs1483022877", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1483022877" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614152", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R539", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614151", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R539", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614153", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R539", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.524.524", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.525.525", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.528.528", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.533.533", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.534.534", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.540.540", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.542.542", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.549.549", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.550.550", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.551.551", "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": 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": "Q92819-1.53.53", "start_pos": 53, "end_pos": 53, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs865981026", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs865981026", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs865981026", "url": "https://www.ensembl.org/id/rs865981026", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "GYQFIQTDNYYFSFGLYGAF", "down_seq": "ASHLIIQSLFAFLEHRKMKK", "snv": [ { "evidence": [ { "id": "rs865981026", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs865981026" }, { "id": "rs865981026", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs865981026" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629183", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L53", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q92819-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.73.73", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.540.540", "start_pos": 540, "end_pos": 540, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs201471220", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201471220", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs201471220", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201471220", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs201471220", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201471220", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ACYWVMLLTLYVVLINKCGR", "down_seq": "KKGQQYDMVLDV", "snv": [ { "evidence": [ { "id": "rs201471220", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201471220" }, { "id": "rs201471220", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201471220" }, { "id": "rs201471220", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201471220" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614150", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R540", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "id": "rs201471220", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201471220" }, { "id": "rs201471220", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201471220" }, { "id": "rs201471220", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201471220" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614150", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R540", "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", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q92819-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.524.524", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.525.525", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.528.528", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.533.533", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.534.534", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.539.539", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.542.542", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.549.549", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.550.550", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.551.551", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "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": "Q92819-1.541.541", "start_pos": 541, "end_pos": 541, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs772778631", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772778631", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs772778631", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772778631", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs772778631", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772778631", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "CYWVMLLTLYVVLINKCGRR", "down_seq": "KGQQYDMVLDV", "snv": [ { "evidence": [ { "id": "rs772778631", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772778631" }, { "id": "rs772778631", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772778631" }, { "id": "rs772778631", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772778631" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614147", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K541", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.524.524", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.525.525", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.528.528", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.533.533", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.534.534", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.539.539", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.540.540", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.542.542", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.549.549", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.550.550", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.551.551", "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": "Q92819-1.542.542", "start_pos": 542, "end_pos": 542, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1295477932", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1295477932", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1295477932", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1295477932", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "YWVMLLTLYVVLINKCGRRK", "down_seq": "GQQYDMVLDV", "snv": [ { "evidence": [ { "id": "rs1295477932", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1295477932" }, { "id": "rs1295477932", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1295477932" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614143", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K542", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.524.524", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.525.525", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.528.528", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.533.533", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.534.534", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.539.539", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.540.540", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.549.549", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.550.550", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.551.551", "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": "Q92819-1.543.543", "start_pos": 543, "end_pos": 543, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs749839961", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749839961", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs749839961", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749839961", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs749839961", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749839961", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1586500954", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1586500954", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1586500954", "url": "https://www.ensembl.org/id/rs1586500954", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "WVMLLTLYVVLINKCGRRKK", "down_seq": "QQYDMVLDV", "snv": [ { "evidence": [ { "id": "rs749839961", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749839961" }, { "id": "rs749839961", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749839961" }, { "id": "rs749839961", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749839961" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614140", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G543", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "id": "rs749839961", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749839961" }, { "id": "rs749839961", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749839961" }, { "id": "rs749839961", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749839961" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614140", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G543", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "id": "rs1586500954", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1586500954" }, { "id": "rs1586500954", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1586500954" } ], "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, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614141", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G543", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.524.524", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.525.525", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.528.528", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.533.533", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.534.534", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.539.539", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.540.540", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.542.542", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.549.549", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.550.550", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.551.551", "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": 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": "Q92819-1.544.544", "start_pos": 544, "end_pos": 544, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "VMLLTLYVVLINKCGRRKKG", "down_seq": "QYDMVLDV", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614136", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Q544", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.524.524", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.525.525", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.528.528", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.533.533", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.534.534", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.539.539", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.540.540", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.542.542", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.549.549", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.550.550", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.551.551", "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": "Q92819-1.546.546", "start_pos": 546, "end_pos": 546, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs908992183", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs908992183", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs908992183", "url": "https://www.ensembl.org/id/rs908992183", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "LLTLYVVLINKCGRRKKGQQ", "down_seq": "DMVLDV", "snv": [ { "evidence": [ { "id": "rs908992183", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs908992183" }, { "id": "rs908992183", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs908992183" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614132", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y546", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.528.528", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.533.533", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.534.534", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.539.539", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.540.540", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.542.542", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.549.549", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.550.550", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.551.551", "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": "Q92819-1.547.547", "start_pos": 547, "end_pos": 547, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LTLYVVLINKCGRRKKGQQY", "down_seq": "MVLDV", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "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, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614128", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "D547", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.528.528", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.533.533", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.534.534", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.539.539", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.540.540", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.542.542", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.549.549", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.550.550", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.551.551", "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": "Q92819-1.549.549", "start_pos": 549, "end_pos": 549, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1294249506", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1294249506", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1294249506", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1294249506", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "LYVVLINKCGRRKKGQQYDM", "down_seq": "LDV", "snv": [ { "evidence": [ { "id": "rs1294249506", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1294249506" }, { "id": "rs1294249506", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1294249506" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614123", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V549", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.533.533", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.534.534", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.539.539", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.540.540", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.542.542", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.550.550", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.551.551", "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": "Q92819-1.54.54", "start_pos": 54, "end_pos": 54, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1443393200", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1443393200", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1443393200", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1443393200", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "YQFIQTDNYYFSFGLYGAFL", "down_seq": "SHLIIQSLFAFLEHRKMKKS", "snv": [ { "evidence": [ { "id": "rs1443393200", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1443393200" }, { "id": "rs1443393200", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1443393200" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629180", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A54", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.74.74", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.550.550", "start_pos": 550, "end_pos": 550, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1415034560", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1415034560", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1415034560", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1415034560", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "YVVLINKCGRRKKGQQYDMV", "down_seq": "DV", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "id": "rs1415034560", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1415034560" }, { "id": "rs1415034560", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1415034560" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614120", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L550", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.530.530", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.533.533", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.534.534", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.539.539", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.540.540", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.542.542", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.549.549", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.551.551", "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": "Q92819-1.551.551", "start_pos": 551, "end_pos": 551, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1586500931", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1586500931", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1586500931", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1586500931#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1586500931", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1586500931", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1812670868", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812670868", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812670868", "url": "https://www.ensembl.org/id/rs1812670868", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "VVLINKCGRRKKGQQYDMVL", "down_seq": "", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121614115", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D551", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1586500931", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1586500931" }, { "id": "rs1586500931", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1586500931#frequency_tab" }, { "id": "rs1586500931", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1586500931" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614117", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D551", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1812670868", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812670868" }, { "id": "rs1812670868", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1812670868" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121614116", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D551", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.533.533", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.534.534", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.535.535", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.539.539", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.540.540", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.541.541", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.542.542", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.543.543", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.546.546", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.547.547", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.549.549", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.550.550", "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": 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": "Q92819-1.56.56", "start_pos": 56, "end_pos": 56, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "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": "H", "start_aa": "H", "up_seq": "FIQTDNYYFSFGLYGAFLAS", "down_seq": "LIIQSLFAFLEHRKMKKSLE", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "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": "H", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629174", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "H56", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "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": "H", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629174", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "H56", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.74.74", "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": 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": "Q92819-1.58.58", "start_pos": 58, "end_pos": 58, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "QTDNYYFSFGLYGAFLASHL", "down_seq": "IQSLFAFLEHRKMKKSLETP", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629167", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "I58", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.74.74", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.78.78", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.59.59", "start_pos": 59, "end_pos": 59, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs558440137", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs558440137", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs558440137", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs558440137", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs558440137", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs558440137", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs558440137", "url": "https://www.ncbi.nlm.nih.gov/snp/rs558440137#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs558440137", "url": "http://gnomad.broadinstitute.org/awesome?query=rs558440137", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "TDNYYFSFGLYGAFLASHLI", "down_seq": "QSLFAFLEHRKMKKSLETPI", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "I", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629165", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "I59", "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": "rs558440137", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs558440137" }, { "id": "rs558440137", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs558440137" }, { "id": "rs558440137", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs558440137" }, { "id": "rs558440137", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs558440137#frequency_tab" }, { "id": "rs558440137", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs558440137" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629166", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "I59", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.74.74", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.79.79", "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": 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": "Q92819-1.5.5", "start_pos": 5, "end_pos": 5, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2130445935", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2130445935", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2130445935", "url": "https://www.ensembl.org/id/rs2130445935", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1812898178", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812898178", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812898178", "url": "https://www.ensembl.org/id/rs1812898178", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "MHCE", "down_seq": "FLCILRIIGTTLFGVSLLLG", "snv": [ { "evidence": [ { "id": "rs2130445935", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2130445935" }, { "id": "rs2130445935", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2130445935" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629328", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R5", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629327", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R5", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629327", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R5", "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": "rs1812898178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812898178" }, { "id": "rs1812898178", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1812898178" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629326", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R5", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q92819-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.25.25", "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": 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": "Q92819-1.62.62", "start_pos": 62, "end_pos": 62, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1812896469", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812896469", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812896469", "url": "https://www.ensembl.org/id/rs1812896469", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "YYFSFGLYGAFLASHLIIQS", "down_seq": "FAFLEHRKMKKSLETPIKLN", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629157", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L62", "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": "rs1812896469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812896469" }, { "id": "rs1812896469", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1812896469" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629157", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L62", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.74.74", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.82.82", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q92819-1.65.65", "start_pos": 65, "end_pos": 65, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs754390538", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754390538", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs754390538", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754390538", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs754390538", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754390538#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs754390538", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754390538", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "SFGLYGAFLASHLIIQSLFA", "down_seq": "LEHRKMKKSLETPIKLNKTV", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "F", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629147", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "F65", "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": "rs754390538", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754390538" }, { "id": "rs754390538", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754390538" }, { "id": "rs754390538", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754390538#frequency_tab" }, { "id": "rs754390538", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754390538" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629147", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F65", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.74.74", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.85.85", "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": 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": "Q92819-1.67.67", "start_pos": 67, "end_pos": 67, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs780348004", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780348004", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs780348004", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780348004", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs780348004", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780348004", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "GLYGAFLASHLIIQSLFAFL", "down_seq": "HRKMKKSLETPIKLNKTVAL", "snv": [ { "evidence": [ { "id": "rs780348004", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780348004" }, { "id": "rs780348004", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780348004" }, { "id": "rs780348004", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780348004" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629141", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E67", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.74.74", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.87.87", "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": "Q92819-1.6.6", "start_pos": 6, "end_pos": 6, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs768862495", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768862495", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs768862495", "url": "https://www.ensembl.org/id/rs768862495", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "MHCER", "down_seq": "LCILRIIGTTLFGVSLLLGI", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "id": "rs768862495", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768862495" }, { "id": "rs768862495", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs768862495" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "F", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629323", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "F6", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q92819-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.25.25", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.71.71", "start_pos": 71, "end_pos": 71, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1268387954", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1268387954", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1268387954", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1268387954", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "AFLASHLIIQSLFAFLEHRK", "down_seq": "KKSLETPIKLNKTVALCIAA", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629128", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "M71", "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": "rs1268387954", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1268387954" }, { "id": "rs1268387954", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1268387954" } ], "glycoeffect": [], "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629130", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M71", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.74.74", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.91.91", "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": 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": "Q92819-1.72.72", "start_pos": 72, "end_pos": 72, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "FLASHLIIQSLFAFLEHRKM", "down_seq": "KSLETPIKLNKTVALCIAAY", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629126", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K72", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.74.74", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.91.91", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.73.73", "start_pos": 73, "end_pos": 73, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs575943749", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs575943749", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs575943749", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs575943749", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs575943749", "url": "http://gnomad.broadinstitute.org/awesome?query=rs575943749", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LASHLIIQSLFAFLEHRKMK", "down_seq": "SLETPIKLNKTVALCIAAYQ", "snv": [ { "evidence": [ { "id": "rs575943749", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs575943749" }, { "id": "rs575943749", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs575943749" }, { "id": "rs575943749", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs575943749" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629124", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K73", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629124", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K73", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.74.74", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.93.93", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q92819-1.74.74", "start_pos": 74, "end_pos": 74, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ASHLIIQSLFAFLEHRKMKK", "down_seq": "LETPIKLNKTVALCIAAYQE", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629120", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S74", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.94.94", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.77.77", "start_pos": 77, "end_pos": 77, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1412620825", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1412620825", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1412620825", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1412620825", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LIIQSLFAFLEHRKMKKSLE", "down_seq": "PIKLNKTVALCIAAYQEDPD", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4177", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629111", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T77", "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" ] }, { "evidence": [ { "id": "rs1412620825", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1412620825" }, { "id": "rs1412620825", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1412620825" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629111", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T77", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.74.74", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.97.97", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q92819-1.78.78", "start_pos": 78, "end_pos": 78, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs751650446", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751650446", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs751650446", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751650446", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs751650446", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751650446#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs751650446", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751650446", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "IIQSLFAFLEHRKMKKSLET", "down_seq": "IKLNKTVALCIAAYQEDPDY", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629108", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P78", "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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "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, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629108", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P78", "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": "rs751650446", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751650446" }, { "id": "rs751650446", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751650446" }, { "id": "rs751650446", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751650446#frequency_tab" }, { "id": "rs751650446", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751650446" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629109", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P78", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.74.74", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.97.97", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q92819-1.79.79", "start_pos": 79, "end_pos": 79, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs764116373", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764116373", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs764116373", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764116373", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs764116373", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764116373", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1586507735", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1586507735", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1586507735", "url": "https://www.ensembl.org/id/rs1586507735", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "IQSLFAFLEHRKMKKSLETP", "down_seq": "KLNKTVALCIAAYQEDPDYL", "snv": [ { "evidence": [ { "id": "rs764116373", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764116373" }, { "id": "rs764116373", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764116373" }, { "id": "rs764116373", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764116373" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629105", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I79", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1586507735", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1586507735" }, { "id": "rs1586507735", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1586507735" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629106", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I79", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.74.74", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.99.99", "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": 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": "Q92819-1.81.81", "start_pos": 81, "end_pos": 81, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs775602022", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775602022", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs775602022", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775602022", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs775602022", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775602022#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs775602022", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775602022", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "SLFAFLEHRKMKKSLETPIK", "down_seq": "NKTVALCIAAYQEDPDYLRK", "snv": [ { "evidence": [ { "id": "rs775602022", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775602022" }, { "id": "rs775602022", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775602022" }, { "id": "rs775602022", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775602022#frequency_tab" }, { "id": "rs775602022", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775602022" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629100", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L81", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.74.74", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.101.101", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.82.82", "start_pos": 82, "end_pos": 82, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1201160800", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1201160800", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1201160800", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1201160800#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs769649890", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769649890", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs769649890", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769649890", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs769649890", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769649890", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LFAFLEHRKMKKSLETPIKL", "down_seq": "KTVALCIAAYQEDPDYLRKC", "snv": [ { "evidence": [ { "id": "rs1201160800", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1201160800" }, { "id": "rs1201160800", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1201160800#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629095", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N82", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769649890", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769649890" }, { "id": "rs769649890", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769649890" }, { "id": "rs769649890", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769649890" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629096", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N82", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.74.74", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.102.102", "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": 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": "Q92819-1.83.83", "start_pos": 83, "end_pos": 83, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1812894405", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812894405", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812894405", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812894405#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "FAFLEHRKMKKSLETPIKLN", "down_seq": "TVALCIAAYQEDPDYLRKCL", "snv": [ { "evidence": [ { "id": "rs1812894405", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812894405" }, { "id": "rs1812894405", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812894405#frequency_tab" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629094", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K83", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q92819-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.74.74", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.103.103", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.85.85", "start_pos": 85, "end_pos": 85, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1812894357", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812894357", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812894357", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812894357#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "FLEHRKMKKSLETPIKLNKT", "down_seq": "ALCIAAYQEDPDYLRKCLQS", "snv": [ { "evidence": [ { "id": "rs1812894357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812894357" }, { "id": "rs1812894357", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812894357#frequency_tab" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629088", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V85", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.74.74", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.104.104", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.86.86", "start_pos": 86, "end_pos": 86, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "LEHRKMKKSLETPIKLNKTV", "down_seq": "LCIAAYQEDPDYLRKCLQSV", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629084", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A86", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.74.74", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.106.106", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.87.87", "start_pos": 87, "end_pos": 87, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "EHRKMKKSLETPIKLNKTVA", "down_seq": "CIAAYQEDPDYLRKCLQSVK", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629082", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L87", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.74.74", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.106.106", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.88.88", "start_pos": 88, "end_pos": 88, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "HRKMKKSLETPIKLNKTVAL", "down_seq": "IAAYQEDPDYLRKCLQSVKR", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "C", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629077", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "C88", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.74.74", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.108.108", "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": "Q92819-1.89.89", "start_pos": 89, "end_pos": 89, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1186334769", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1186334769", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1186334769", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1186334769", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "RKMKKSLETPIKLNKTVALC", "down_seq": "AAYQEDPDYLRKCLQSVKRL", "snv": [ { "evidence": [ { "id": "rs1186334769", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1186334769" }, { "id": "rs1186334769", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1186334769" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629076", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I89", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.74.74", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.108.108", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.8.8", "start_pos": 8, "end_pos": 8, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1812898070", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812898070", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812898070", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812898070#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1355149549", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1355149549", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1355149549", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1355149549#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1355149549", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1355149549", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "MHCERFL", "down_seq": "ILRIIGTTLFGVSLLLGITA", "snv": [ { "evidence": [ { "id": "rs1812898070", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812898070" }, { "id": "rs1812898070", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812898070#frequency_tab" } ], "glycoeffect": [], "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629319", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C8", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1355149549", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1355149549" }, { "id": "rs1355149549", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1355149549#frequency_tab" }, { "id": "rs1355149549", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1355149549" } ], "glycoeffect": [], "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629318", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C8", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q92819-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.25.25", "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": 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": "Q92819-1.91.91", "start_pos": 91, "end_pos": 91, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs776627331", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776627331", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs776627331", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776627331", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs776627331", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776627331", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "MKKSLETPIKLNKTVALCIA", "down_seq": "YQEDPDYLRKCLQSVKRLTY", "snv": [ { "evidence": [ { "id": "rs776627331", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776627331" }, { "id": "rs776627331", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776627331" }, { "id": "rs776627331", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776627331" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629070", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A91", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.74.74", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.110.110", "categories": [ "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.111.111", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.93.93", "start_pos": 93, "end_pos": 93, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "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": "Q", "start_aa": "Q", "up_seq": "KSLETPIKLNKTVALCIAAY", "down_seq": "EDPDYLRKCLQSVKRLTYPG", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629064", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Q93", "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" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "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": "Q", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629062", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Q93", "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: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": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629063", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Q93", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.74.74", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.110.110", "categories": [ "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.111.111", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.113.113", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": 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_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.94.94", "start_pos": 94, "end_pos": 94, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "SLETPIKLNKTVALCIAAYQ", "down_seq": "DPDYLRKCLQSVKRLTYPGI", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629059", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E94", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.74.74", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.110.110", "categories": [ "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.111.111", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.113.113", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.95.95", "start_pos": 95, "end_pos": 95, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1213885463", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1213885463", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1213885463", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1213885463#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1213885463", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1213885463", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LETPIKLNKTVALCIAAYQE", "down_seq": "PDYLRKCLQSVKRLTYPGIK", "snv": [ { "evidence": [ { "id": "rs1213885463", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1213885463" }, { "id": "rs1213885463", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1213885463#frequency_tab" }, { "id": "rs1213885463", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1213885463" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629058", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D95", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1213885463", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1213885463" }, { "id": "rs1213885463", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1213885463#frequency_tab" }, { "id": "rs1213885463", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1213885463" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629058", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D95", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q92819-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.110.110", "categories": [ "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.111.111", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.115.115", "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": 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": "Q92819-1.96.96", "start_pos": 96, "end_pos": 96, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1436825947", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1436825947", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1436825947", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1436825947", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "ETPIKLNKTVALCIAAYQED", "down_seq": "DYLRKCLQSVKRLTYPGIKV", "snv": [ { "evidence": [ { "id": "rs1436825947", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1436825947" }, { "id": "rs1436825947", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1436825947" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629054", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P96", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q92819-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q92819-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q92819-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.110.110", "categories": [ "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.111.111", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q92819-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q92819-1.115.115", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.97.97", "start_pos": 97, "end_pos": 97, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs746682818", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746682818", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs746682818", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746682818", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs746682818", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746682818", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1229475473", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1229475473", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1229475473", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1229475473#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1229475473", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1229475473", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1812893779", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812893779", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1812893779", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812893779#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "TPIKLNKTVALCIAAYQEDP", "down_seq": "YLRKCLQSVKRLTYPGIKVV", "snv": [ { "evidence": [ { "id": "rs746682818", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746682818" }, { "id": "rs746682818", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746682818" }, { "id": "rs746682818", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746682818" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629051", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D97", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1229475473", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1229475473" }, { "id": "rs1229475473", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1229475473#frequency_tab" }, { "id": "rs1229475473", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1229475473" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629050", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D97", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" }, { "id": "rs1812893779", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812893779" }, { "id": "rs1812893779", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812893779#frequency_tab" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629052", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "D97", "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": "rs1812893779", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1812893779" }, { "id": "rs1812893779", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1812893779#frequency_tab" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629052", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D97", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q92819-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q92819-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q92819-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.110.110", "categories": [ "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.111.111", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.117.117", "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": 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": "Q92819-1.99.99", "start_pos": 99, "end_pos": 99, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q92819", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "IKLNKTVALCIAAYQEDPDY", "down_seq": "RKCLQSVKRLTYPGIKVVMV", "snv": [ { "evidence": [ { "id": "Q92819", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92819" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "8", "chr_pos": "121629046", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L99", "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": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q92819-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q92819-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q92819-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q92819-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q92819-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q92819-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q92819-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q92819-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q92819-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q92819-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q92819-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q92819-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q92819-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q92819-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q92819-1.110.110", "categories": [ "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q92819-1.111.111", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q92819-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q92819-1.117.117", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q92819-1.9.9", "start_pos": 9, "end_pos": 9, "uniprot_canonical_ac": "Q92819-1", "length": 552, "uniprot_id": "HYAS2_HUMAN", "protein_name": "Hyaluronan synthase 2", "refseq_ac": "NP_005319", "refseq_name": "hyaluronan synthase 2", "gene_name": "HAS2", "gene_names_uniprotkb": "HAS2", "gene_names_refseq": "HAS2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92819", "url": "https://www.uniprot.org/uniprotkb/Q92819" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs753082198", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753082198", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs753082198", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753082198", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs753082198", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753082198#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs753082198", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753082198", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "MHCERFLC", "down_seq": "LRIIGTTLFGVSLLLGITAA", "snv": [ { "evidence": [ { "id": "rs753082198", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753082198" }, { "id": "rs753082198", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753082198" }, { "id": "rs753082198", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753082198#frequency_tab" }, { "id": "rs753082198", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753082198" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "121629316", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I9", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "221", "end_pos": "221" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "328", "end_pos": "328" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "443", "end_pos": "443" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "496", "end_pos": "496" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "328", "end_pos": "328" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q92819-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q92819-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q92819-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q92819-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q92819-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q92819-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q92819-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q92819-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q92819-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q92819-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q92819-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q92819-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q92819-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q92819-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q92819-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q92819-1.29.29", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q969J5-1.166.166", "start_pos": 166, "end_pos": 166, "uniprot_canonical_ac": "Q969J5-1", "length": 263, "uniprot_id": "I22R2_HUMAN", "protein_name": "Interleukin-22 receptor subunit alpha-2", "refseq_ac": "NP_443194", "refseq_name": "interleukin-22 receptor subunit alpha-2 isoform 1 precursor", "gene_name": "IL22RA2", "gene_names_uniprotkb": "IL22RA2; PRO19822", "gene_names_refseq": "CRF2-10; CRF2-S1; CRF2X; IL-22BP; IL-22R-alpha-2; IL-22RA2; IL22RA2; ZCYTOR16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q969J5", "url": "https://www.uniprot.org/uniprotkb/Q969J5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q969J5", "url": "https://www.uniprot.org/uniprotkb/Q969J5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q969J5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969J5", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1778212412", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778212412", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1778212412", "url": "https://www.ensembl.org/id/rs1778212412", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "WSMTPRFTPWWETKIDPPVM", "down_seq": "ITQVNGSLLVILHAPNLPYR", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn166", "evidence": [ { "id": "Q969J5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q969J5#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "Q969J5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969J5" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NIT->IIT).", "chr_id": "6", "chr_pos": "137147867", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "N166", "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": "rs1778212412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778212412" }, { "id": "rs1778212412", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778212412" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NIT->TIT).", "chr_id": "6", "chr_pos": "137147867", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N166", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "56", "end_pos": "56" } ] }, { "type": "snv", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q969J5-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q969J5-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q969J5-1.171.171", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q969J5-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q969J5-1.184.184", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "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": "Q969J5-1.171.171", "start_pos": 171, "end_pos": 171, "uniprot_canonical_ac": "Q969J5-1", "length": 263, "uniprot_id": "I22R2_HUMAN", "protein_name": "Interleukin-22 receptor subunit alpha-2", "refseq_ac": "NP_443194", "refseq_name": "interleukin-22 receptor subunit alpha-2 isoform 1 precursor", "gene_name": "IL22RA2", "gene_names_uniprotkb": "IL22RA2; PRO19822", "gene_names_refseq": "CRF2-10; CRF2-S1; CRF2X; IL-22BP; IL-22R-alpha-2; IL-22RA2; IL22RA2; ZCYTOR16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q969J5", "url": "https://www.uniprot.org/uniprotkb/Q969J5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q969J5", "url": "https://www.uniprot.org/uniprotkb/Q969J5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs760549716", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760549716", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs760549716", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760549716", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs760549716", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760549716#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs760549716", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760549716", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "RFTPWWETKIDPPVMNITQV", "down_seq": "GSLLVILHAPNLPYRYQKEK", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn171", "evidence": [ { "id": "Q969J5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q969J5#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs760549716", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760549716" }, { "id": "rs760549716", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760549716" }, { "id": "rs760549716", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760549716#frequency_tab" }, { "id": "rs760549716", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760549716" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGS->IGS).", "chr_id": "6", "chr_pos": "137147852", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N171", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760549716", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760549716" }, { "id": "rs760549716", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760549716" }, { "id": "rs760549716", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760549716#frequency_tab" }, { "id": "rs760549716", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760549716" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGS->SGS).", "chr_id": "6", "chr_pos": "137147852", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N171", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "56", "end_pos": "56" } ] }, { "type": "snv", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q969J5-1.166.166", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q969J5-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q969J5-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q969J5-1.184.184", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q969J5-1.192.192", "start_pos": 192, "end_pos": 192, "uniprot_canonical_ac": "Q969J5-1", "length": 263, "uniprot_id": "I22R2_HUMAN", "protein_name": "Interleukin-22 receptor subunit alpha-2", "refseq_ac": "NP_443194", "refseq_name": "interleukin-22 receptor subunit alpha-2 isoform 1 precursor", "gene_name": "IL22RA2", "gene_names_uniprotkb": "IL22RA2; PRO19822", "gene_names_refseq": "CRF2-10; CRF2-S1; CRF2X; IL-22BP; IL-22R-alpha-2; IL-22RA2; IL22RA2; ZCYTOR16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q969J5", "url": "https://www.uniprot.org/uniprotkb/Q969J5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q969J5", "url": "https://www.uniprot.org/uniprotkb/Q969J5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs1778210483", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778210483", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1778210483", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778210483#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs931893801", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs931893801", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs931893801", "url": "https://www.ensembl.org/id/rs931893801", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "GSLLVILHAPNLPYRYQKEK", "down_seq": "VSIEDYYELLYRVFIINNSL", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn192", "evidence": [ { "id": "Q969J5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q969J5#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs1778210483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778210483" }, { "id": "rs1778210483", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778210483#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVS->IVS).", "chr_id": "6", "chr_pos": "137147789", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N192", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs931893801", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs931893801" }, { "id": "rs931893801", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs931893801" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVS->KVS).", "chr_id": "6", "chr_pos": "137147788", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N192", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "56", "end_pos": "56" } ] }, { "type": "snv", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q969J5-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q969J5-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q969J5-1.209.209", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q969J5-1.211.211", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q969J5-1.209.209", "start_pos": 209, "end_pos": 209, "uniprot_canonical_ac": "Q969J5-1", "length": 263, "uniprot_id": "I22R2_HUMAN", "protein_name": "Interleukin-22 receptor subunit alpha-2", "refseq_ac": "NP_443194", "refseq_name": "interleukin-22 receptor subunit alpha-2 isoform 1 precursor", "gene_name": "IL22RA2", "gene_names_uniprotkb": "IL22RA2; PRO19822", "gene_names_refseq": "CRF2-10; CRF2-S1; CRF2X; IL-22BP; IL-22R-alpha-2; IL-22RA2; IL22RA2; ZCYTOR16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q969J5", "url": "https://www.uniprot.org/uniprotkb/Q969J5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q969J5", "url": "https://www.uniprot.org/uniprotkb/Q969J5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs770953862", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770953862", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs770953862", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770953862", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs770953862", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770953862#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs770953862", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770953862", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "KEKNVSIEDYYELLYRVFII", "down_seq": "NSLEKEQKVYEGAHRAVEIE", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn209", "evidence": [ { "id": "Q969J5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q969J5#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs770953862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770953862" }, { "id": "rs770953862", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770953862" }, { "id": "rs770953862", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770953862#frequency_tab" }, { "id": "rs770953862", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770953862" } ], "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": "6", "chr_pos": "137147737", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N209", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "56", "end_pos": "56" } ] }, { "type": "snv", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q969J5-1.192.192", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q969J5-1.211.211", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q969J5-1.56.56", "start_pos": 56, "end_pos": 56, "uniprot_canonical_ac": "Q969J5-1", "length": 263, "uniprot_id": "I22R2_HUMAN", "protein_name": "Interleukin-22 receptor subunit alpha-2", "refseq_ac": "NP_443194", "refseq_name": "interleukin-22 receptor subunit alpha-2 isoform 1 precursor", "gene_name": "IL22RA2", "gene_names_uniprotkb": "IL22RA2; PRO19822", "gene_names_refseq": "CRF2-10; CRF2-S1; CRF2X; IL-22BP; IL-22R-alpha-2; IL-22RA2; IL22RA2; ZCYTOR16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q969J5", "url": "https://www.uniprot.org/uniprotkb/Q969J5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q969J5", "url": "https://www.uniprot.org/uniprotkb/Q969J5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs374224961", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374224961", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs374224961", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374224961", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs374224961", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374224961#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs374224961", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374224961", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "FQSRNFHNILQWQPGRALTG", "down_seq": "SSVYFVQYKIMFSCSMKSSH", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn56", "evidence": [ { "id": "Q969J5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q969J5#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs374224961", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374224961" }, { "id": "rs374224961", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374224961" }, { "id": "rs374224961", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374224961#frequency_tab" }, { "id": "rs374224961", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374224961" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NSS->ISS).", "chr_id": "6", "chr_pos": "137158377", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N56", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs374224961", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374224961" }, { "id": "rs374224961", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374224961" }, { "id": "rs374224961", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374224961#frequency_tab" }, { "id": "rs374224961", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374224961" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NSS->SSS).", "chr_id": "6", "chr_pos": "137158377", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N56", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "56", "end_pos": "56" } ] }, { "type": "snv", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "upstream", "id": "Q969J5-1.73.73", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q969J5-1.147.147", "start_pos": 147, "end_pos": 147, "uniprot_canonical_ac": "Q969J5-1", "length": 263, "uniprot_id": "I22R2_HUMAN", "protein_name": "Interleukin-22 receptor subunit alpha-2", "refseq_ac": "NP_443194", "refseq_name": "interleukin-22 receptor subunit alpha-2 isoform 1 precursor", "gene_name": "IL22RA2", "gene_names_uniprotkb": "IL22RA2; PRO19822", "gene_names_refseq": "CRF2-10; CRF2-S1; CRF2X; IL-22BP; IL-22R-alpha-2; IL-22RA2; IL22RA2; ZCYTOR16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q969J5", "url": "https://www.uniprot.org/uniprotkb/Q969J5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q969J5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969J5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "IQEPYYGRVRAASAGSYSEW", "down_seq": "MTPRFTPWWETKIDPPVMNI", "snv": [ { "evidence": [ { "id": "Q969J5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969J5" } ], "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 (SMT->NMT).", "chr_id": "6", "chr_pos": "137154973", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S147", "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": "166", "end_pos": "166" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "56", "end_pos": "56" } ] }, { "type": "snv", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "Q969J5-1.166.166", "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": "Q969J5-1.168.168", "start_pos": 168, "end_pos": 168, "uniprot_canonical_ac": "Q969J5-1", "length": 263, "uniprot_id": "I22R2_HUMAN", "protein_name": "Interleukin-22 receptor subunit alpha-2", "refseq_ac": "NP_443194", "refseq_name": "interleukin-22 receptor subunit alpha-2 isoform 1 precursor", "gene_name": "IL22RA2", "gene_names_uniprotkb": "IL22RA2; PRO19822", "gene_names_refseq": "CRF2-10; CRF2-S1; CRF2X; IL-22BP; IL-22R-alpha-2; IL-22RA2; IL22RA2; ZCYTOR16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q969J5", "url": "https://www.uniprot.org/uniprotkb/Q969J5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs202182316", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202182316", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs202182316", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs202182316", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs202182316", "url": "http://gnomad.broadinstitute.org/awesome?query=rs202182316", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "MTPRFTPWWETKIDPPVMNI", "down_seq": "QVNGSLLVILHAPNLPYRYQ", "snv": [ { "evidence": [ { "id": "rs202182316", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202182316" }, { "id": "rs202182316", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs202182316" }, { "id": "rs202182316", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs202182316" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NIT->NIN).", "chr_id": "6", "chr_pos": "137147861", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "T168", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "56", "end_pos": "56" } ] }, { "type": "snv", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q969J5-1.166.166", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q969J5-1.171.171", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q969J5-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q969J5-1.184.184", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q969J5-1.173.173", "start_pos": 173, "end_pos": 173, "uniprot_canonical_ac": "Q969J5-1", "length": 263, "uniprot_id": "I22R2_HUMAN", "protein_name": "Interleukin-22 receptor subunit alpha-2", "refseq_ac": "NP_443194", "refseq_name": "interleukin-22 receptor subunit alpha-2 isoform 1 precursor", "gene_name": "IL22RA2", "gene_names_uniprotkb": "IL22RA2; PRO19822", "gene_names_refseq": "CRF2-10; CRF2-S1; CRF2X; IL-22BP; IL-22R-alpha-2; IL-22RA2; IL22RA2; ZCYTOR16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q969J5", "url": "https://www.uniprot.org/uniprotkb/Q969J5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q969J5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969J5", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs771965917", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771965917", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs771965917", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771965917", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs771965917", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771965917", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs771965917", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs771965917", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TPWWETKIDPPVMNITQVNG", "down_seq": "LLVILHAPNLPYRYQKEKNV", "snv": [ { "evidence": [ { "id": "Q969J5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969J5" }, { "id": "rs771965917", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771965917" }, { "id": "rs771965917", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771965917" }, { "id": "rs771965917", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771965917" } ], "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 (NGS->NGF).", "chr_id": "6", "chr_pos": "137147846", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S173", "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": "Q969J5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969J5" }, { "id": "rs771965917", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771965917" }, { "id": "rs771965917", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771965917" }, { "id": "rs771965917", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771965917" }, { "id": "rs771965917", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs771965917" } ], "glycoeffect": [ "n-glyco-sequon-loss", "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: n-glyco-sequon-loss (NGS->NGY).", "chr_id": "6", "chr_pos": "137147846", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S173", "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": "166", "end_pos": "166" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "56", "end_pos": "56" } ] }, { "type": "snv", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q969J5-1.166.166", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q969J5-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q969J5-1.171.171", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q969J5-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q969J5-1.192.192", "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": 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": "Q969J5-1.184.184", "start_pos": 184, "end_pos": 184, "uniprot_canonical_ac": "Q969J5-1", "length": 263, "uniprot_id": "I22R2_HUMAN", "protein_name": "Interleukin-22 receptor subunit alpha-2", "refseq_ac": "NP_443194", "refseq_name": "interleukin-22 receptor subunit alpha-2 isoform 1 precursor", "gene_name": "IL22RA2", "gene_names_uniprotkb": "IL22RA2; PRO19822", "gene_names_refseq": "CRF2-10; CRF2-S1; CRF2X; IL-22BP; IL-22R-alpha-2; IL-22RA2; IL22RA2; ZCYTOR16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q969J5", "url": "https://www.uniprot.org/uniprotkb/Q969J5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs748380412", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748380412", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748380412", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748380412", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748380412", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748380412#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs748380412", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748380412", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "VMNITQVNGSLLVILHAPNL", "down_seq": "YRYQKEKNVSIEDYYELLYR", "snv": [ { "evidence": [ { "id": "rs748380412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748380412" }, { "id": "rs748380412", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748380412" }, { "id": "rs748380412", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748380412#frequency_tab" }, { "id": "rs748380412", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748380412" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLP->NLS).", "chr_id": "6", "chr_pos": "137147814", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P184", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748380412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748380412" }, { "id": "rs748380412", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748380412" }, { "id": "rs748380412", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748380412#frequency_tab" }, { "id": "rs748380412", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748380412" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLP->NLT).", "chr_id": "6", "chr_pos": "137147814", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P184", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "56", "end_pos": "56" } ] }, { "type": "snv", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q969J5-1.166.166", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q969J5-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q969J5-1.171.171", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q969J5-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q969J5-1.192.192", "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": "Q969J5-1.211.211", "start_pos": 211, "end_pos": 211, "uniprot_canonical_ac": "Q969J5-1", "length": 263, "uniprot_id": "I22R2_HUMAN", "protein_name": "Interleukin-22 receptor subunit alpha-2", "refseq_ac": "NP_443194", "refseq_name": "interleukin-22 receptor subunit alpha-2 isoform 1 precursor", "gene_name": "IL22RA2", "gene_names_uniprotkb": "IL22RA2; PRO19822", "gene_names_refseq": "CRF2-10; CRF2-S1; CRF2X; IL-22BP; IL-22R-alpha-2; IL-22RA2; IL22RA2; ZCYTOR16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q969J5", "url": "https://www.uniprot.org/uniprotkb/Q969J5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q969J5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969J5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KNVSIEDYYELLYRVFIINN", "down_seq": "LEKEQKVYEGAHRAVEIEAL", "snv": [ { "evidence": [ { "id": "Q969J5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969J5" } ], "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 (NNS->NN*).", "chr_id": "6", "chr_pos": "137147732", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S211", "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": "166", "end_pos": "166" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "56", "end_pos": "56" } ] }, { "type": "snv", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q969J5-1.192.192", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q969J5-1.209.209", "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": "Q969J5-1.73.73", "start_pos": 73, "end_pos": 73, "uniprot_canonical_ac": "Q969J5-1", "length": 263, "uniprot_id": "I22R2_HUMAN", "protein_name": "Interleukin-22 receptor subunit alpha-2", "refseq_ac": "NP_443194", "refseq_name": "interleukin-22 receptor subunit alpha-2 isoform 1 precursor", "gene_name": "IL22RA2", "gene_names_uniprotkb": "IL22RA2; PRO19822", "gene_names_refseq": "CRF2-10; CRF2-S1; CRF2X; IL-22BP; IL-22R-alpha-2; IL-22RA2; IL22RA2; ZCYTOR16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q969J5", "url": "https://www.uniprot.org/uniprotkb/Q969J5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q969J5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969J5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LTGNSSVYFVQYKIMFSCSM", "down_seq": "SSHQKPSGCWQHISCNFPGC", "snv": [ { "evidence": [ { "id": "Q969J5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969J5" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2670", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KSS->NSS).", "chr_id": "6", "chr_pos": "137156833", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K73", "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": "166", "end_pos": "166" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "56", "end_pos": "56" } ] }, { "type": "snv", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q969J5-1.56.56", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q969J5-1.91.91", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q969J5-1.91.91", "start_pos": 91, "end_pos": 91, "uniprot_canonical_ac": "Q969J5-1", "length": 263, "uniprot_id": "I22R2_HUMAN", "protein_name": "Interleukin-22 receptor subunit alpha-2", "refseq_ac": "NP_443194", "refseq_name": "interleukin-22 receptor subunit alpha-2 isoform 1 precursor", "gene_name": "IL22RA2", "gene_names_uniprotkb": "IL22RA2; PRO19822", "gene_names_refseq": "CRF2-10; CRF2-S1; CRF2X; IL-22BP; IL-22R-alpha-2; IL-22RA2; IL22RA2; ZCYTOR16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q969J5", "url": "https://www.uniprot.org/uniprotkb/Q969J5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs773751903", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773751903", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs773751903", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773751903", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs773751903", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773751903#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs773751903", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773751903", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "SMKSSHQKPSGCWQHISCNF", "down_seq": "GCRTLAKYGQRQWKNKEDCW", "snv": [ { "evidence": [ { "id": "rs773751903", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773751903" }, { "id": "rs773751903", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773751903" }, { "id": "rs773751903", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773751903#frequency_tab" }, { "id": "rs773751903", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773751903" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NFP->NFS).", "chr_id": "6", "chr_pos": "137156781", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P91", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "56", "end_pos": "56" } ] }, { "type": "snv", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q969J5-1.73.73", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96FT9-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q96FT9-1", "length": 208, "uniprot_id": "IFT43_HUMAN", "protein_name": "Intraflagellar transport protein 43 homolog", "refseq_ac": "NP_001096034", "refseq_name": "intraflagellar transport protein 43 homolog isoform 2", "gene_name": "IFT43", "gene_names_uniprotkb": "IFT43; C14orf179", "gene_names_refseq": "C14orf179; CED3; IFT43; RP81; SRTD18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96FT9", "url": "https://www.uniprot.org/uniprotkb/Q96FT9" } ], "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": "Q96FT9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96FT9" } ], "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": "Q96FT9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96FT9", "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": "Q96FT9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96FT9" } ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "24", "end_pos": "24" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q96FT9-1.9.9", "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": "Q96FT9-1.24.24", "start_pos": 24, "end_pos": 24, "uniprot_canonical_ac": "Q96FT9-1", "length": 208, "uniprot_id": "IFT43_HUMAN", "protein_name": "Intraflagellar transport protein 43 homolog", "refseq_ac": "NP_001096034", "refseq_name": "intraflagellar transport protein 43 homolog isoform 2", "gene_name": "IFT43", "gene_names_uniprotkb": "IFT43; C14orf179", "gene_names_refseq": "C14orf179; CED3; IFT43; RP81; SRTD18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96FT9", "url": "https://www.uniprot.org/uniprotkb/Q96FT9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96FT9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96FT9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LLDLDEELRYSLATSRAKMG", "down_seq": "RAQQESAQAENHLNGKNSSL", "snv": [ { "evidence": [ { "id": "Q96FT9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96FT9" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "75988900", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R24", "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": "24", "end_pos": "24" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q96FT9-1.9.9", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96FT9-1.9.9", "start_pos": 9, "end_pos": 9, "uniprot_canonical_ac": "Q96FT9-1", "length": 208, "uniprot_id": "IFT43_HUMAN", "protein_name": "Intraflagellar transport protein 43 homolog", "refseq_ac": "NP_001096034", "refseq_name": "intraflagellar transport protein 43 homolog isoform 2", "gene_name": "IFT43", "gene_names_uniprotkb": "IFT43; C14orf179", "gene_names_refseq": "C14orf179; CED3; IFT43; RP81; SRTD18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96FT9", "url": "https://www.uniprot.org/uniprotkb/Q96FT9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96FT9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96FT9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "MEDLLDLD", "down_seq": "ELRYSLATSRAKMGRRAQQE", "snv": [ { "evidence": [ { "id": "Q96FT9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96FT9" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "E", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "14", "chr_pos": "75985811", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "E9", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "24", "end_pos": "24" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q96FT9-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q96FT9-1.24.24", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_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": "Q96FT9-1.78.78", "start_pos": 78, "end_pos": 78, "uniprot_canonical_ac": "Q96FT9-1", "length": 208, "uniprot_id": "IFT43_HUMAN", "protein_name": "Intraflagellar transport protein 43 homolog", "refseq_ac": "NP_001096034", "refseq_name": "intraflagellar transport protein 43 homolog isoform 2", "gene_name": "IFT43", "gene_names_uniprotkb": "IFT43; C14orf179", "gene_names_refseq": "C14orf179; CED3; IFT43; RP81; SRTD18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96FT9", "url": "https://www.uniprot.org/uniprotkb/Q96FT9" } ], "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": "Q96FT9", "url": "https://www.uniprot.org/uniprotkb/Q96FT9" }, { "database": "iPTMnet", "id": "Q96FT9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96FT9" } ], "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": "Q96FT9", "url": "https://www.uniprot.org/uniprotkb/Q96FT9" }, { "database": "iPTMnet", "id": "Q96FT9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96FT9" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q96FT9", "url": "https://www.uniprot.org/uniprotkb/Q96FT9", "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": "Q96FT9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96FT9", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "CRQGGWAGDSVKASKFRRKA", "down_seq": "EEIEDFRLRPQSLNGSDYGG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q96FT9", "url": "https://www.uniprot.org/uniprotkb/Q96FT9" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q96FT9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96FT9" } ], "site_lbl": "Ser78" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "24", "end_pos": "24" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "78", "end_pos": "78" } ] } ], "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": "Q9BSH5-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q9BSH5-1", "length": 251, "uniprot_id": "HDHD3_HUMAN", "protein_name": "Haloacid dehalogenase-like hydrolase domain-containing protein 3", "refseq_ac": "NP_001291438", "refseq_name": "haloacid dehalogenase-like hydrolase domain-containing protein 3", "gene_name": "HDHD3", "gene_names_uniprotkb": "HDHD3; C9orf158", "gene_names_refseq": "2810435D12Rik; C9orf158; HDHD3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BSH5", "url": "https://www.uniprot.org/uniprotkb/Q9BSH5" } ], "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": "Q9BSH5", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BSH5" } ], "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": "Q9BSH5", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BSH5", "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": "Q9BSH5", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BSH5" } ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "125", "end_pos": "125" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "86", "end_pos": "86" } ] } ], "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": "Q9BSH5-1.125.125", "start_pos": 125, "end_pos": 125, "uniprot_canonical_ac": "Q9BSH5-1", "length": 251, "uniprot_id": "HDHD3_HUMAN", "protein_name": "Haloacid dehalogenase-like hydrolase domain-containing protein 3", "refseq_ac": "NP_001291438", "refseq_name": "haloacid dehalogenase-like hydrolase domain-containing protein 3", "gene_name": "HDHD3", "gene_names_uniprotkb": "HDHD3; C9orf158", "gene_names_refseq": "2810435D12Rik; C9orf158; HDHD3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BSH5", "url": "https://www.uniprot.org/uniprotkb/Q9BSH5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BSH5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BSH5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FSHPCTWQVLDGAEDTLREC", "down_seq": "TRGLRLAVISNFDRRLEGIL", "snv": [ { "evidence": [ { "id": "Q9BSH5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BSH5" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "9", "chr_pos": "113373982", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R125", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID: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": "125", "end_pos": "125" }, { "start_pos": "240", "end_pos": "240" }, { "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": "Q9BSH5-1.240.240", "start_pos": 240, "end_pos": 240, "uniprot_canonical_ac": "Q9BSH5-1", "length": 251, "uniprot_id": "HDHD3_HUMAN", "protein_name": "Haloacid dehalogenase-like hydrolase domain-containing protein 3", "refseq_ac": "NP_001291438", "refseq_name": "haloacid dehalogenase-like hydrolase domain-containing protein 3", "gene_name": "HDHD3", "gene_names_uniprotkb": "HDHD3; C9orf158", "gene_names_refseq": "2810435D12Rik; C9orf158; HDHD3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BSH5", "url": "https://www.uniprot.org/uniprotkb/Q9BSH5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BSH5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BSH5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "VVRDSVPKEHILPSLAHLLP", "down_seq": "LDCLEGSTPGL", "snv": [ { "evidence": [ { "id": "Q9BSH5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BSH5" } ], "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": "9", "chr_pos": "113373636", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A240", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "125", "end_pos": "125" }, { "start_pos": "240", "end_pos": "240" }, { "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": 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": "Q9BSH5-1.86.86", "start_pos": 86, "end_pos": 86, "uniprot_canonical_ac": "Q9BSH5-1", "length": 251, "uniprot_id": "HDHD3_HUMAN", "protein_name": "Haloacid dehalogenase-like hydrolase domain-containing protein 3", "refseq_ac": "NP_001291438", "refseq_name": "haloacid dehalogenase-like hydrolase domain-containing protein 3", "gene_name": "HDHD3", "gene_names_uniprotkb": "HDHD3; C9orf158", "gene_names_refseq": "2810435D12Rik; C9orf158; HDHD3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BSH5", "url": "https://www.uniprot.org/uniprotkb/Q9BSH5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BSH5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BSH5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "SHGLTSRQWWLDVVLQTFHL", "down_seq": "GVQDAQAVAPIAEQLYKDFS", "snv": [ { "evidence": [ { "id": "Q9BSH5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BSH5" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "9", "chr_pos": "113374098", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A86", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID: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": "125", "end_pos": "125" }, { "start_pos": "240", "end_pos": "240" }, { "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": "Q9BX68-1.47.47", "start_pos": 47, "end_pos": 47, "uniprot_canonical_ac": "Q9BX68-1", "length": 163, "uniprot_id": "HINT2_HUMAN", "protein_name": "Adenosine 5'-monophosphoramidase HINT2", "refseq_ac": "NP_115982", "refseq_name": "adenosine 5'-monophosphoramidase HINT2 precursor", "gene_name": "HINT2", "gene_names_uniprotkb": "HINT2", "gene_names_refseq": "HINT2; HIT-17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BX68", "url": "https://www.uniprot.org/uniprotkb/Q9BX68" } ], "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": "rs759104993", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759104993", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs759104993", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759104993", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs759104993", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759104993", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "QVRGAAGVTDGNEVAKAQQA", "down_seq": "PGGAAPTIFSRILDKSLPAD", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr47", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs759104993", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759104993" }, { "id": "rs759104993", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759104993" }, { "id": "rs759104993", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759104993" } ], "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": "9", "chr_pos": "35813727", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T47", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759104993", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759104993" }, { "id": "rs759104993", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759104993" }, { "id": "rs759104993", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759104993" } ], "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": "9", "chr_pos": "35813727", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T47", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "47", "end_pos": "47" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "149", "end_pos": "149" } ] }, { "type": "snv", "site_list": [ { "start_pos": "119", "end_pos": "119" }, { "start_pos": "47", "end_pos": "47" } ] } ], "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": "Q9BX68-1.149.149", "start_pos": 149, "end_pos": 149, "uniprot_canonical_ac": "Q9BX68-1", "length": 163, "uniprot_id": "HINT2_HUMAN", "protein_name": "Adenosine 5'-monophosphoramidase HINT2", "refseq_ac": "NP_115982", "refseq_name": "adenosine 5'-monophosphoramidase HINT2 precursor", "gene_name": "HINT2", "gene_names_uniprotkb": "HINT2", "gene_names_refseq": "HINT2; HIT-17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BX68", "url": "https://www.uniprot.org/uniprotkb/Q9BX68" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Hint2, a mitochondrial apoptotic sensitizer down-regulated in hepatocellular carcinoma.", "journal": "Gastroenterology", "date": "2006", "authors": "Martin J, Magnino F, Schmidt K, Piguet AC, Lee JS, Semela D, St-Pierre MV, Ziemiecki A, Cassio D, Brenner C, Thorgeirsson SS, Dufour JF", "evidence": [ { "database": "UniProtKB", "id": "Q9BX68", "url": "https://www.uniprot.org/uniprotkb/Q9BX68" } ], "reference": [ { "type": "PubMed", "id": "16762638", "url": "https://glygen.org/publication/PubMed/16762638" } ] } ], "crossref": [ { "id": "Q9BX68", "url": "https://www.uniprot.org/uniprotkb/Q9BX68", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "16762638", "url": "https://glygen.org/publication/PubMed/16762638", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "DGYRLVINDGKLGAQSVYHL", "down_seq": "IHVLGGRQLQWPPG", "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Loss of adenosine phosphoramidase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9BX68", "url": "https://www.uniprot.org/uniprotkb/Q9BX68" }, { "database": "PubMed", "id": "16762638", "url": "https://glygen.org/publication/PubMed/16762638" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "47", "end_pos": "47" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "149", "end_pos": "149" } ] }, { "type": "snv", "site_list": [ { "start_pos": "119", "end_pos": "119" }, { "start_pos": "47", "end_pos": "47" } ] } ], "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": "Q9BX68-1.119.119", "start_pos": 119, "end_pos": 119, "uniprot_canonical_ac": "Q9BX68-1", "length": 163, "uniprot_id": "HINT2_HUMAN", "protein_name": "Adenosine 5'-monophosphoramidase HINT2", "refseq_ac": "NP_115982", "refseq_name": "adenosine 5'-monophosphoramidase HINT2 precursor", "gene_name": "HINT2", "gene_names_uniprotkb": "HINT2", "gene_names_refseq": "HINT2; HIT-17", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BX68", "url": "https://www.uniprot.org/uniprotkb/Q9BX68" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1179372678", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1179372678", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1179372678", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1179372678", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "RISQAEEEDQQLLGHLLLVA", "down_seq": "QTAKAEGLGDGYRLVINDGK", "snv": [ { "evidence": [ { "id": "rs1179372678", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1179372678" }, { "id": "rs1179372678", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1179372678" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KQT->NQT).", "chr_id": "9", "chr_pos": "35813309", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K119", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "47", "end_pos": "47" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "149", "end_pos": "149" } ] }, { "type": "snv", "site_list": [ { "start_pos": "119", "end_pos": "119" }, { "start_pos": "47", "end_pos": "47" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BYX4-1.23.23", "start_pos": 23, "end_pos": 23, "uniprot_canonical_ac": "Q9BYX4-1", "length": 1025, "uniprot_id": "IFIH1_HUMAN", "protein_name": "Interferon-induced helicase C domain-containing protein 1", "refseq_ac": "NP_071451", "refseq_name": "interferon-induced helicase C domain-containing protein 1", "gene_name": "IFIH1", "gene_names_uniprotkb": "IFIH1; MDA5; RH116", "gene_names_refseq": "AGS7; Hlcd; IDDM19; IFIH1; IMD95; MDA-5; MDA5; RLR-2; SGMRT1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "ISG15-dependent activation of the sensor MDA5 is antagonized by the SARS-CoV-2 papain-like protease to evade host innate immunity.", "journal": "Nature microbiology", "date": "2021", "authors": "Liu G, Lee JH, Parker ZM, Acharya D, Chiang JJ, van Gent M, Riedl W, Davis-Gardner ME, Wies E, Chiang C, Gack MU", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" }, { "database": "Reactome", "id": "R-HSA-9705671", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9705671" }, { "database": "iPTMnet", "id": "Q9BYX4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BYX4" } ], "reference": [ { "type": "PubMed", "id": "33727702", "url": "https://glygen.org/publication/PubMed/33727702" } ] } ], "crossref": [ { "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "33727702", "url": "https://glygen.org/publication/PubMed/33727702", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "NGYSTDENFRYLISCFRARV", "down_seq": "MYIQVEPVLDYLTFLPAEVK", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of ISGylation, loss of oligomerization, strongly reduced signaling activity and IFNB induction, loss of virus replication restriction, no effect on phosphorylation or RNA-binding; when associated with A-43.", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" }, { "database": "PubMed", "id": "33727702", "url": "https://glygen.org/publication/PubMed/33727702" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "23", "end_pos": "23" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "443", "end_pos": "446" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "488", "end_pos": "490" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "74", "end_pos": "75" }, { "start_pos": "789", "end_pos": "793" }, { "start_pos": "818", "end_pos": "822" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "841", "end_pos": "842" }, { "start_pos": "848", "end_pos": "849" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "snv", "site_list": [ { "start_pos": "238", "end_pos": "238" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "822", "end_pos": "822" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "upstream", "id": "Q9BYX4-1.43.43", "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": "Q9BYX4-1.251.251", "start_pos": 251, "end_pos": 251, "uniprot_canonical_ac": "Q9BYX4-1", "length": 1025, "uniprot_id": "IFIH1_HUMAN", "protein_name": "Interferon-induced helicase C domain-containing protein 1", "refseq_ac": "NP_071451", "refseq_name": "interferon-induced helicase C domain-containing protein 1", "gene_name": "IFIH1", "gene_names_uniprotkb": "IFIH1; MDA5; RH116", "gene_names_refseq": "AGS7; Hlcd; IDDM19; IFIH1; IMD95; MDA-5; MDA5; RLR-2; SGMRT1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Overexpression of Helicard, a CARD-containing helicase cleaved during apoptosis, accelerates DNA degradation.", "journal": "Current biology : CB", "date": "2002", "authors": "Kovacsovics M, Martinon F, Micheau O, Bodmer JL, Hofmann K, Tschopp J", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "reference": [ { "type": "PubMed", "id": "12015121", "url": "https://glygen.org/publication/PubMed/12015121" } ] } ], "crossref": [ { "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "12015121", "url": "https://glygen.org/publication/PubMed/12015121", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "PNLEKEVWGMENNSSESSFA", "down_seq": "SSVVSESDTSLAEGSVSCLD", "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "No cleavage and no acceleration of DNA degradation.", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" }, { "database": "PubMed", "id": "12015121", "url": "https://glygen.org/publication/PubMed/12015121" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "23", "end_pos": "23" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "443", "end_pos": "446" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "488", "end_pos": "490" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "74", "end_pos": "75" }, { "start_pos": "789", "end_pos": "793" }, { "start_pos": "818", "end_pos": "822" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "841", "end_pos": "842" }, { "start_pos": "848", "end_pos": "849" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "snv", "site_list": [ { "start_pos": "238", "end_pos": "238" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "822", "end_pos": "822" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q9BYX4-1.238.238", "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": "Q9BYX4-1.335.335", "start_pos": 335, "end_pos": 335, "uniprot_canonical_ac": "Q9BYX4-1", "length": 1025, "uniprot_id": "IFIH1_HUMAN", "protein_name": "Interferon-induced helicase C domain-containing protein 1", "refseq_ac": "NP_071451", "refseq_name": "interferon-induced helicase C domain-containing protein 1", "gene_name": "IFIH1", "gene_names_uniprotkb": "IFIH1; MDA5; RH116", "gene_names_refseq": "AGS7; Hlcd; IDDM19; IFIH1; IMD95; MDA-5; MDA5; RLR-2; SGMRT1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Regulation of signal transduction by enzymatically inactive antiviral RNA helicase proteins MDA5, RIG-I, and LGP2.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Bamming D, Horvath CM", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "reference": [ { "type": "PubMed", "id": "19211564", "url": "https://glygen.org/publication/PubMed/19211564" } ] } ], "crossref": [ { "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19211564", "url": "https://glygen.org/publication/PubMed/19211564", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "VAQPALEGKNIIICLPTGSG", "down_seq": "TRVAVYIAKDHLDKKKKASE", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of dsRNA-induced ATPase activity. No effect on RNA binding. Changed MDA-5 signaling pathway.", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" }, { "database": "PubMed", "id": "19211564", "url": "https://glygen.org/publication/PubMed/19211564" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "23", "end_pos": "23" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "443", "end_pos": "446" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "488", "end_pos": "490" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "74", "end_pos": "75" }, { "start_pos": "789", "end_pos": "793" }, { "start_pos": "818", "end_pos": "822" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "841", "end_pos": "842" }, { "start_pos": "848", "end_pos": "849" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "snv", "site_list": [ { "start_pos": "238", "end_pos": "238" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "822", "end_pos": "822" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "88", "end_pos": "88" } ] } ], "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": "Q9BYX4-1.43.43", "start_pos": 43, "end_pos": 43, "uniprot_canonical_ac": "Q9BYX4-1", "length": 1025, "uniprot_id": "IFIH1_HUMAN", "protein_name": "Interferon-induced helicase C domain-containing protein 1", "refseq_ac": "NP_071451", "refseq_name": "interferon-induced helicase C domain-containing protein 1", "gene_name": "IFIH1", "gene_names_uniprotkb": "IFIH1; MDA5; RH116", "gene_names_refseq": "AGS7; Hlcd; IDDM19; IFIH1; IMD95; MDA-5; MDA5; RLR-2; SGMRT1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "ISG15-dependent activation of the sensor MDA5 is antagonized by the SARS-CoV-2 papain-like protease to evade host innate immunity.", "journal": "Nature microbiology", "date": "2021", "authors": "Liu G, Lee JH, Parker ZM, Acharya D, Chiang JJ, van Gent M, Riedl W, Davis-Gardner ME, Wies E, Chiang C, Gack MU", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" }, { "database": "Reactome", "id": "R-HSA-9705671", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9705671" }, { "database": "iPTMnet", "id": "Q9BYX4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BYX4" } ], "reference": [ { "type": "PubMed", "id": "33727702", "url": "https://glygen.org/publication/PubMed/33727702" } ] } ], "crossref": [ { "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "33727702", "url": "https://glygen.org/publication/PubMed/33727702", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "KMYIQVEPVLDYLTFLPAEV", "down_seq": "EQIQRTVATSGNMQAVELLL", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of ISGylation, loss of oligomerization, strongly reduced signaling activity and IFNB induction, loss of virus replication restriction, no effect on phosphorylation or RNA-binding; when associated with A-23.", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" }, { "database": "PubMed", "id": "33727702", "url": "https://glygen.org/publication/PubMed/33727702" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "23", "end_pos": "23" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "443", "end_pos": "446" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "488", "end_pos": "490" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "74", "end_pos": "75" }, { "start_pos": "789", "end_pos": "793" }, { "start_pos": "818", "end_pos": "822" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "841", "end_pos": "842" }, { "start_pos": "848", "end_pos": "849" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "snv", "site_list": [ { "start_pos": "238", "end_pos": "238" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "822", "end_pos": "822" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9BYX4-1.23.23", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9BYX4-1.49.49", "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": "Q9BYX4-1.443.446", "start_pos": 443, "end_pos": 446, "uniprot_canonical_ac": "Q9BYX4-1", "length": 1025, "uniprot_id": "IFIH1_HUMAN", "protein_name": "Interferon-induced helicase C domain-containing protein 1", "refseq_ac": "NP_071451", "refseq_name": "interferon-induced helicase C domain-containing protein 1", "gene_name": "IFIH1", "gene_names_uniprotkb": "IFIH1; MDA5; RH116", "gene_names_refseq": "AGS7; Hlcd; IDDM19; IFIH1; IMD95; MDA-5; MDA5; RLR-2; SGMRT1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Regulation of signal transduction by enzymatically inactive antiviral RNA helicase proteins MDA5, RIG-I, and LGP2.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Bamming D, Horvath CM", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "reference": [ { "type": "PubMed", "id": "19211564", "url": "https://glygen.org/publication/PubMed/19211564" } ] } ], "crossref": [ { "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19211564", "url": "https://glygen.org/publication/PubMed/19211564", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "DECH", "start_aa": "D", "up_seq": "NLENGEDAGVQLSDFSLIII", "down_seq": "HTNKEAVYNNIMRHYLMQKL", "mutagenesis": [ { "sequence_org": "DECH", "sequence_mut": "AACA", "comment": "Loss of dsRNA-induced ATPase activity. No effect on RNA binding. Changed MDA-5 signaling pathway.", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" }, { "database": "PubMed", "id": "19211564", "url": "https://glygen.org/publication/PubMed/19211564" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "23", "end_pos": "23" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "443", "end_pos": "446" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "488", "end_pos": "490" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "74", "end_pos": "75" }, { "start_pos": "789", "end_pos": "793" }, { "start_pos": "818", "end_pos": "822" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "841", "end_pos": "842" }, { "start_pos": "848", "end_pos": "849" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "snv", "site_list": [ { "start_pos": "238", "end_pos": "238" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "822", "end_pos": "822" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9BYX4-1.444.444", "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": "Q9BYX4-1.444.444", "start_pos": 444, "end_pos": 444, "uniprot_canonical_ac": "Q9BYX4-1", "length": 1025, "uniprot_id": "IFIH1_HUMAN", "protein_name": "Interferon-induced helicase C domain-containing protein 1", "refseq_ac": "NP_071451", "refseq_name": "interferon-induced helicase C domain-containing protein 1", "gene_name": "IFIH1", "gene_names_uniprotkb": "IFIH1; MDA5; RH116", "gene_names_refseq": "AGS7; Hlcd; IDDM19; IFIH1; IMD95; MDA-5; MDA5; RLR-2; SGMRT1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Overexpression of Helicard, a CARD-containing helicase cleaved during apoptosis, accelerates DNA degradation.", "journal": "Current biology : CB", "date": "2002", "authors": "Kovacsovics M, Martinon F, Micheau O, Bodmer JL, Hofmann K, Tschopp J", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "reference": [ { "type": "PubMed", "id": "12015121", "url": "https://glygen.org/publication/PubMed/12015121" } ] } ], "crossref": [ { "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "12015121", "url": "https://glygen.org/publication/PubMed/12015121", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "LENGEDAGVQLSDFSLIIID", "down_seq": "CHHTNKEAVYNNIMRHYLMQ", "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "No acceleration of DNA degradation, no binding to ATP, and no helicase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" }, { "database": "PubMed", "id": "12015121", "url": "https://glygen.org/publication/PubMed/12015121" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "23", "end_pos": "23" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "443", "end_pos": "446" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "488", "end_pos": "490" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "74", "end_pos": "75" }, { "start_pos": "789", "end_pos": "793" }, { "start_pos": "818", "end_pos": "822" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "841", "end_pos": "842" }, { "start_pos": "848", "end_pos": "849" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "snv", "site_list": [ { "start_pos": "238", "end_pos": "238" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "822", "end_pos": "822" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9BYX4-1.443.446", "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": "Q9BYX4-1.488.490", "start_pos": 488, "end_pos": 490, "uniprot_canonical_ac": "Q9BYX4-1", "length": 1025, "uniprot_id": "IFIH1_HUMAN", "protein_name": "Interferon-induced helicase C domain-containing protein 1", "refseq_ac": "NP_071451", "refseq_name": "interferon-induced helicase C domain-containing protein 1", "gene_name": "IFIH1", "gene_names_uniprotkb": "IFIH1; MDA5; RH116", "gene_names_refseq": "AGS7; Hlcd; IDDM19; IFIH1; IMD95; MDA-5; MDA5; RLR-2; SGMRT1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Regulation of signal transduction by enzymatically inactive antiviral RNA helicase proteins MDA5, RIG-I, and LGP2.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Bamming D, Horvath CM", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "reference": [ { "type": "PubMed", "id": "19211564", "url": "https://glygen.org/publication/PubMed/19211564" } ] } ], "crossref": [ { "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19211564", "url": "https://glygen.org/publication/PubMed/19211564", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "TAS", "start_aa": "T", "up_seq": "NNRLKKENKPVIPLPQILGL", "down_seq": "PGVGGATKQAKAEEHILKLC", "mutagenesis": [ { "sequence_org": "TAS", "sequence_mut": "AAA", "comment": "Loss of dsRNA-induced ATPase activity. No effect on RNA binding. Changed MDA-5 signaling pathway.", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" }, { "database": "PubMed", "id": "19211564", "url": "https://glygen.org/publication/PubMed/19211564" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "23", "end_pos": "23" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "443", "end_pos": "446" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "488", "end_pos": "490" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "74", "end_pos": "75" }, { "start_pos": "789", "end_pos": "793" }, { "start_pos": "818", "end_pos": "822" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "841", "end_pos": "842" }, { "start_pos": "848", "end_pos": "849" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "snv", "site_list": [ { "start_pos": "238", "end_pos": "238" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "822", "end_pos": "822" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "88", "end_pos": "88" } ] } ], "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": "Q9BYX4-1.68.68", "start_pos": 68, "end_pos": 68, "uniprot_canonical_ac": "Q9BYX4-1", "length": 1025, "uniprot_id": "IFIH1_HUMAN", "protein_name": "Interferon-induced helicase C domain-containing protein 1", "refseq_ac": "NP_071451", "refseq_name": "interferon-induced helicase C domain-containing protein 1", "gene_name": "IFIH1", "gene_names_uniprotkb": "IFIH1; MDA5; RH116", "gene_names_refseq": "AGS7; Hlcd; IDDM19; IFIH1; IMD95; MDA-5; MDA5; RLR-2; SGMRT1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "ISG15-dependent activation of the sensor MDA5 is antagonized by the SARS-CoV-2 papain-like protease to evade host innate immunity.", "journal": "Nature microbiology", "date": "2021", "authors": "Liu G, Lee JH, Parker ZM, Acharya D, Chiang JJ, van Gent M, Riedl W, Davis-Gardner ME, Wies E, Chiang C, Gack MU", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" }, { "database": "Reactome", "id": "R-HSA-9705671", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9705671" }, { "database": "iPTMnet", "id": "Q9BYX4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BYX4" } ], "reference": [ { "type": "PubMed", "id": "33727702", "url": "https://glygen.org/publication/PubMed/33727702" } ] } ], "crossref": [ { "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "33727702", "url": "https://glygen.org/publication/PubMed/33727702", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "RTVATSGNMQAVELLLSTLE", "down_seq": "GVWHLGWTREFVEALRRTGS", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "No effect on ISGylation or signaling activity and IFNB induction.", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" }, { "database": "PubMed", "id": "33727702", "url": "https://glygen.org/publication/PubMed/33727702" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "23", "end_pos": "23" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "443", "end_pos": "446" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "488", "end_pos": "490" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "74", "end_pos": "75" }, { "start_pos": "789", "end_pos": "793" }, { "start_pos": "818", "end_pos": "822" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "841", "end_pos": "842" }, { "start_pos": "848", "end_pos": "849" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "snv", "site_list": [ { "start_pos": "238", "end_pos": "238" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "822", "end_pos": "822" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9BYX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9BYX4-1.74.75", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9BYX4-1.88.88", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9BYX4-1.74.75", "start_pos": 74, "end_pos": 75, "uniprot_canonical_ac": "Q9BYX4-1", "length": 1025, "uniprot_id": "IFIH1_HUMAN", "protein_name": "Interferon-induced helicase C domain-containing protein 1", "refseq_ac": "NP_071451", "refseq_name": "interferon-induced helicase C domain-containing protein 1", "gene_name": "IFIH1", "gene_names_uniprotkb": "IFIH1; MDA5; RH116", "gene_names_refseq": "AGS7; Hlcd; IDDM19; IFIH1; IMD95; MDA-5; MDA5; RLR-2; SGMRT1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "ISG15-dependent activation of the sensor MDA5 is antagonized by the SARS-CoV-2 papain-like protease to evade host innate immunity.", "journal": "Nature microbiology", "date": "2021", "authors": "Liu G, Lee JH, Parker ZM, Acharya D, Chiang JJ, van Gent M, Riedl W, Davis-Gardner ME, Wies E, Chiang C, Gack MU", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" }, { "database": "Reactome", "id": "R-HSA-9705671", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9705671" }, { "database": "iPTMnet", "id": "Q9BYX4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BYX4" } ], "reference": [ { "type": "PubMed", "id": "33727702", "url": "https://glygen.org/publication/PubMed/33727702" } ] } ], "crossref": [ { "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "33727702", "url": "https://glygen.org/publication/PubMed/33727702", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "GW", "start_aa": "G", "up_seq": "GNMQAVELLLSTLEKGVWHL", "down_seq": "TREFVEALRRTGSPLAARYM", "mutagenesis": [ { "sequence_org": "GW", "sequence_mut": "AA", "comment": "Loss of oligomerization.", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" }, { "database": "PubMed", "id": "33727702", "url": "https://glygen.org/publication/PubMed/33727702" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "23", "end_pos": "23" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "443", "end_pos": "446" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "488", "end_pos": "490" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "74", "end_pos": "75" }, { "start_pos": "789", "end_pos": "793" }, { "start_pos": "818", "end_pos": "822" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "841", "end_pos": "842" }, { "start_pos": "848", "end_pos": "849" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "snv", "site_list": [ { "start_pos": "238", "end_pos": "238" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "822", "end_pos": "822" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q9BYX4-1.68.68", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9BYX4-1.88.88", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9BYX4-1.789.793", "start_pos": 789, "end_pos": 793, "uniprot_canonical_ac": "Q9BYX4-1", "length": 1025, "uniprot_id": "IFIH1_HUMAN", "protein_name": "Interferon-induced helicase C domain-containing protein 1", "refseq_ac": "NP_071451", "refseq_name": "interferon-induced helicase C domain-containing protein 1", "gene_name": "IFIH1", "gene_names_uniprotkb": "IFIH1; MDA5; RH116", "gene_names_refseq": "AGS7; Hlcd; IDDM19; IFIH1; IMD95; MDA-5; MDA5; RLR-2; SGMRT1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Regulation of signal transduction by enzymatically inactive antiviral RNA helicase proteins MDA5, RIG-I, and LGP2.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Bamming D, Horvath CM", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "reference": [ { "type": "PubMed", "id": "19211564", "url": "https://glygen.org/publication/PubMed/19211564" } ] } ], "crossref": [ { "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19211564", "url": "https://glygen.org/publication/PubMed/19211564", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "TTVAE", "start_aa": "T", "up_seq": "NEQKEVISKFRTGKINLLIA", "down_seq": "EGLDIKECNIVIRYGLVTNE", "mutagenesis": [ { "sequence_org": "TTVAE", "sequence_mut": "ATVAA", "comment": "Loss of dsRNA-induced ATPase activity. Loss of MDA-5 signaling pathway.", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" }, { "database": "PubMed", "id": "19211564", "url": "https://glygen.org/publication/PubMed/19211564" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "23", "end_pos": "23" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "443", "end_pos": "446" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "488", "end_pos": "490" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "74", "end_pos": "75" }, { "start_pos": "789", "end_pos": "793" }, { "start_pos": "818", "end_pos": "822" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "841", "end_pos": "842" }, { "start_pos": "848", "end_pos": "849" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "snv", "site_list": [ { "start_pos": "238", "end_pos": "238" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "822", "end_pos": "822" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "88", "end_pos": "88" } ] } ], "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": "Q9BYX4-1.818.822", "start_pos": 818, "end_pos": 822, "uniprot_canonical_ac": "Q9BYX4-1", "length": 1025, "uniprot_id": "IFIH1_HUMAN", "protein_name": "Interferon-induced helicase C domain-containing protein 1", "refseq_ac": "NP_071451", "refseq_name": "interferon-induced helicase C domain-containing protein 1", "gene_name": "IFIH1", "gene_names_uniprotkb": "IFIH1; MDA5; RH116", "gene_names_refseq": "AGS7; Hlcd; IDDM19; IFIH1; IMD95; MDA-5; MDA5; RLR-2; SGMRT1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Regulation of signal transduction by enzymatically inactive antiviral RNA helicase proteins MDA5, RIG-I, and LGP2.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Bamming D, Horvath CM", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "reference": [ { "type": "PubMed", "id": "19211564", "url": "https://glygen.org/publication/PubMed/19211564" } ] } ], "crossref": [ { "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19211564", "url": "https://glygen.org/publication/PubMed/19211564", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "QARGR", "start_aa": "Q", "up_seq": "IKECNIVIRYGLVTNEIAMV", "down_seq": "ARADESTYVLVAHSGSGVIE", "mutagenesis": [ { "sequence_org": "QARGR", "sequence_mut": "AARGA", "comment": "Loss of dsRNA-induced ATPase activity. No effect on MDA-5 signaling pathway.", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" }, { "database": "PubMed", "id": "19211564", "url": "https://glygen.org/publication/PubMed/19211564" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "23", "end_pos": "23" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "443", "end_pos": "446" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "488", "end_pos": "490" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "74", "end_pos": "75" }, { "start_pos": "789", "end_pos": "793" }, { "start_pos": "818", "end_pos": "822" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "841", "end_pos": "842" }, { "start_pos": "848", "end_pos": "849" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "snv", "site_list": [ { "start_pos": "238", "end_pos": "238" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "822", "end_pos": "822" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 0, "direction": "upstream", "id": "Q9BYX4-1.822.822", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9BYX4-1.828.828", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9BYX4-1.829.829", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9BYX4-1.841.842", "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": "Q9BYX4-1.828.828", "start_pos": 828, "end_pos": 828, "uniprot_canonical_ac": "Q9BYX4-1", "length": 1025, "uniprot_id": "IFIH1_HUMAN", "protein_name": "Interferon-induced helicase C domain-containing protein 1", "refseq_ac": "NP_071451", "refseq_name": "interferon-induced helicase C domain-containing protein 1", "gene_name": "IFIH1", "gene_names_uniprotkb": "IFIH1; MDA5; RH116", "gene_names_refseq": "AGS7; Hlcd; IDDM19; IFIH1; IMD95; MDA-5; MDA5; RLR-2; SGMRT1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "RIOK3-mediated phosphorylation of MDA5 interferes with its assembly and attenuates the innate immune response.", "journal": "Cell reports", "date": "2015", "authors": "Takashima K, Oshiumi H, Takaki H, Matsumoto M, Seya T", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" }, { "database": "iPTMnet", "id": "Q9BYX4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BYX4" } ], "reference": [ { "type": "PubMed", "id": "25865883", "url": "https://glygen.org/publication/PubMed/25865883" } ] } ], "crossref": [ { "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25865883", "url": "https://glygen.org/publication/PubMed/25865883", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9BYX4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BYX4", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GLVTNEIAMVQARGRARADE", "down_seq": "TYVLVAHSGSGVIEHETVND", "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Promotes multimerization after polyI:C stimulation; greatly enhances signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" }, { "database": "PubMed", "id": "25865883", "url": "https://glygen.org/publication/PubMed/25865883" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "Inhibits multimerization after polyI:C stimulation.", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" }, { "database": "PubMed", "id": "25865883", "url": "https://glygen.org/publication/PubMed/25865883" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "O14730-1", "kinase_gene_name": "RIOK3", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9BYX4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BYX4" }, { "database": "PubMed", "id": "25865883", "url": "https://glygen.org/publication/PubMed/25865883" } ], "site_lbl": "Ser828" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by RIOK3", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" }, { "database": "iPTMnet", "id": "Q9BYX4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BYX4" }, { "database": "PubMed", "id": "25865883", "url": "https://glygen.org/publication/PubMed/25865883" } ], "site_lbl": "Ser828" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "23", "end_pos": "23" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "443", "end_pos": "446" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "488", "end_pos": "490" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "74", "end_pos": "75" }, { "start_pos": "789", "end_pos": "793" }, { "start_pos": "818", "end_pos": "822" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "841", "end_pos": "842" }, { "start_pos": "848", "end_pos": "849" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "snv", "site_list": [ { "start_pos": "238", "end_pos": "238" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "822", "end_pos": "822" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q9BYX4-1.818.822", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9BYX4-1.822.822", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9BYX4-1.829.829", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9BYX4-1.841.842", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9BYX4-1.848.849", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9BYX4-1.829.829", "start_pos": 829, "end_pos": 829, "uniprot_canonical_ac": "Q9BYX4-1", "length": 1025, "uniprot_id": "IFIH1_HUMAN", "protein_name": "Interferon-induced helicase C domain-containing protein 1", "refseq_ac": "NP_071451", "refseq_name": "interferon-induced helicase C domain-containing protein 1", "gene_name": "IFIH1", "gene_names_uniprotkb": "IFIH1; MDA5; RH116", "gene_names_refseq": "AGS7; Hlcd; IDDM19; IFIH1; IMD95; MDA-5; MDA5; RLR-2; SGMRT1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "RIOK3-mediated phosphorylation of MDA5 interferes with its assembly and attenuates the innate immune response.", "journal": "Cell reports", "date": "2015", "authors": "Takashima K, Oshiumi H, Takaki H, Matsumoto M, Seya T", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" }, { "database": "iPTMnet", "id": "Q9BYX4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BYX4" } ], "reference": [ { "type": "PubMed", "id": "25865883", "url": "https://glygen.org/publication/PubMed/25865883" } ] } ], "crossref": [ { "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25865883", "url": "https://glygen.org/publication/PubMed/25865883", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LVTNEIAMVQARGRARADES", "down_seq": "YVLVAHSGSGVIEHETVNDF", "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Moderately increases signaling.", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" }, { "database": "PubMed", "id": "25865883", "url": "https://glygen.org/publication/PubMed/25865883" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "23", "end_pos": "23" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "443", "end_pos": "446" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "488", "end_pos": "490" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "74", "end_pos": "75" }, { "start_pos": "789", "end_pos": "793" }, { "start_pos": "818", "end_pos": "822" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "841", "end_pos": "842" }, { "start_pos": "848", "end_pos": "849" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "snv", "site_list": [ { "start_pos": "238", "end_pos": "238" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "822", "end_pos": "822" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9BYX4-1.818.822", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9BYX4-1.822.822", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9BYX4-1.828.828", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9BYX4-1.841.842", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9BYX4-1.848.849", "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": "Q9BYX4-1.841.842", "start_pos": 841, "end_pos": 842, "uniprot_canonical_ac": "Q9BYX4-1", "length": 1025, "uniprot_id": "IFIH1_HUMAN", "protein_name": "Interferon-induced helicase C domain-containing protein 1", "refseq_ac": "NP_071451", "refseq_name": "interferon-induced helicase C domain-containing protein 1", "gene_name": "IFIH1", "gene_names_uniprotkb": "IFIH1; MDA5; RH116", "gene_names_refseq": "AGS7; Hlcd; IDDM19; IFIH1; IMD95; MDA-5; MDA5; RLR-2; SGMRT1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "ISG15-dependent activation of the sensor MDA5 is antagonized by the SARS-CoV-2 papain-like protease to evade host innate immunity.", "journal": "Nature microbiology", "date": "2021", "authors": "Liu G, Lee JH, Parker ZM, Acharya D, Chiang JJ, van Gent M, Riedl W, Davis-Gardner ME, Wies E, Chiang C, Gack MU", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" }, { "database": "Reactome", "id": "R-HSA-9705671", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9705671" }, { "database": "iPTMnet", "id": "Q9BYX4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BYX4" } ], "reference": [ { "type": "PubMed", "id": "33727702", "url": "https://glygen.org/publication/PubMed/33727702" } ] } ], "crossref": [ { "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "33727702", "url": "https://glygen.org/publication/PubMed/33727702", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "IE", "start_aa": "I", "up_seq": "GRARADESTYVLVAHSGSGV", "down_seq": "HETVNDFREKMMYKAIHCVQ", "mutagenesis": [ { "sequence_org": "IE", "sequence_mut": "RR", "comment": "Loss of oligomerization.", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" }, { "database": "PubMed", "id": "33727702", "url": "https://glygen.org/publication/PubMed/33727702" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "23", "end_pos": "23" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "443", "end_pos": "446" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "488", "end_pos": "490" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "74", "end_pos": "75" }, { "start_pos": "789", "end_pos": "793" }, { "start_pos": "818", "end_pos": "822" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "841", "end_pos": "842" }, { "start_pos": "848", "end_pos": "849" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "snv", "site_list": [ { "start_pos": "238", "end_pos": "238" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "822", "end_pos": "822" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9BYX4-1.818.822", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9BYX4-1.822.822", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9BYX4-1.828.828", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9BYX4-1.829.829", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9BYX4-1.848.849", "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": "Q9BYX4-1.848.849", "start_pos": 848, "end_pos": 849, "uniprot_canonical_ac": "Q9BYX4-1", "length": 1025, "uniprot_id": "IFIH1_HUMAN", "protein_name": "Interferon-induced helicase C domain-containing protein 1", "refseq_ac": "NP_071451", "refseq_name": "interferon-induced helicase C domain-containing protein 1", "gene_name": "IFIH1", "gene_names_uniprotkb": "IFIH1; MDA5; RH116", "gene_names_refseq": "AGS7; Hlcd; IDDM19; IFIH1; IMD95; MDA-5; MDA5; RLR-2; SGMRT1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "ISG15-dependent activation of the sensor MDA5 is antagonized by the SARS-CoV-2 papain-like protease to evade host innate immunity.", "journal": "Nature microbiology", "date": "2021", "authors": "Liu G, Lee JH, Parker ZM, Acharya D, Chiang JJ, van Gent M, Riedl W, Davis-Gardner ME, Wies E, Chiang C, Gack MU", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" }, { "database": "Reactome", "id": "R-HSA-9705671", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9705671" }, { "database": "iPTMnet", "id": "Q9BYX4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BYX4" } ], "reference": [ { "type": "PubMed", "id": "33727702", "url": "https://glygen.org/publication/PubMed/33727702" } ] } ], "crossref": [ { "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "33727702", "url": "https://glygen.org/publication/PubMed/33727702", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "DF", "start_aa": "D", "up_seq": "STYVLVAHSGSGVIEHETVN", "down_seq": "REKMMYKAIHCVQNMKPEEY", "mutagenesis": [ { "sequence_org": "DF", "sequence_mut": "AA", "comment": "Loss of oligomerization.", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" }, { "database": "PubMed", "id": "33727702", "url": "https://glygen.org/publication/PubMed/33727702" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "23", "end_pos": "23" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "443", "end_pos": "446" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "488", "end_pos": "490" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "74", "end_pos": "75" }, { "start_pos": "789", "end_pos": "793" }, { "start_pos": "818", "end_pos": "822" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "841", "end_pos": "842" }, { "start_pos": "848", "end_pos": "849" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "snv", "site_list": [ { "start_pos": "238", "end_pos": "238" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "822", "end_pos": "822" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9BYX4-1.828.828", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9BYX4-1.829.829", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9BYX4-1.841.842", "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": "Q9BYX4-1.88.88", "start_pos": 88, "end_pos": 88, "uniprot_canonical_ac": "Q9BYX4-1", "length": 1025, "uniprot_id": "IFIH1_HUMAN", "protein_name": "Interferon-induced helicase C domain-containing protein 1", "refseq_ac": "NP_071451", "refseq_name": "interferon-induced helicase C domain-containing protein 1", "gene_name": "IFIH1", "gene_names_uniprotkb": "IFIH1; MDA5; RH116", "gene_names_refseq": "AGS7; Hlcd; IDDM19; IFIH1; IMD95; MDA-5; MDA5; RLR-2; SGMRT1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "ISG15-dependent activation of the sensor MDA5 is antagonized by the SARS-CoV-2 papain-like protease to evade host innate immunity.", "journal": "Nature microbiology", "date": "2021", "authors": "Liu G, Lee JH, Parker ZM, Acharya D, Chiang JJ, van Gent M, Riedl W, Davis-Gardner ME, Wies E, Chiang C, Gack MU", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" }, { "database": "Reactome", "id": "R-HSA-9705671", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9705671" }, { "database": "iPTMnet", "id": "Q9BYX4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BYX4" } ], "reference": [ { "type": "PubMed", "id": "33727702", "url": "https://glygen.org/publication/PubMed/33727702" } ] }, { "title": "Dephosphorylation of the RNA sensors RIG-I and MDA5 by the phosphatase PP1 is essential for innate immune signaling.", "journal": "Immunity", "date": "2013-03-21", "authors": "Wies Effi, Wang May K, Maharaj Natalya P, Chen Kan, Zhou Shenghua, Finberg Robert W, Gack Michaela U", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "reference": [ { "type": "PubMed", "id": "23499489", "url": "https://glygen.org/publication/PubMed/23499489" } ] }, { "title": "ISG15-dependent Activation of the RNA Sensor MDA5 and its Antagonism by the SARS-CoV-2 papain-like protease.", "journal": "bioRxiv : the preprint server for biology", "date": "2020-10-27", "authors": "Liu GuanQun, Lee Jung-Hyun, Parker Zachary M, Acharya Dhiraj, Chiang Jessica J, van Gent Michiel, Riedl William, Davis-Gardner Meredith E, Wies Effi, Chiang Cindy, Gack Michaela U", "evidence": [ { "database": "iPTMnet", "id": "Q9BYX4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BYX4" } ], "reference": [ { "type": "PubMed", "id": "33140045", "url": "https://glygen.org/publication/PubMed/33140045" } ] } ], "crossref": [ { "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "33727702", "url": "https://glygen.org/publication/PubMed/33727702", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23499489", "url": "https://glygen.org/publication/PubMed/23499489", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9BYX4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BYX4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "33140045", "url": "https://glygen.org/publication/PubMed/33140045", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KGVWHLGWTREFVEALRRTG", "down_seq": "PLAARYMNPELTDLPSPSFE", "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Increases ISGylation. No effect on signaling activity and IFNB induction.", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" }, { "database": "PubMed", "id": "33727702", "url": "https://glygen.org/publication/PubMed/33727702" }, { "database": "PubMed", "id": "23499489", "url": "https://glygen.org/publication/PubMed/23499489" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "Loss of signaling activity and IFNB induction. Reduced ISGylation. Loss of virus replication restriction.", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" }, { "database": "PubMed", "id": "33727702", "url": "https://glygen.org/publication/PubMed/33727702" }, { "database": "PubMed", "id": "23499489", "url": "https://glygen.org/publication/PubMed/23499489" } ] }, { "sequence_org": "S", "sequence_mut": "E", "comment": "Loss of signaling activity and IFNB induction. Reduced ISGylation. Loss of virus replication restriction.", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" }, { "database": "PubMed", "id": "33727702", "url": "https://glygen.org/publication/PubMed/33727702" }, { "database": "PubMed", "id": "23499489", "url": "https://glygen.org/publication/PubMed/23499489" } ] }, { "sequence_org": "S", "sequence_mut": "R", "comment": "No effect on signaling activity and IFNB induction.", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" }, { "database": "PubMed", "id": "33727702", "url": "https://glygen.org/publication/PubMed/33727702" }, { "database": "PubMed", "id": "23499489", "url": "https://glygen.org/publication/PubMed/23499489" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" }, { "database": "PubMed", "id": "33727702", "url": "https://glygen.org/publication/PubMed/33727702" }, { "database": "PubMed", "id": "23499489", "url": "https://glygen.org/publication/PubMed/23499489" }, { "database": "iPTMnet", "id": "Q9BYX4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BYX4" }, { "database": "PubMed", "id": "33140045", "url": "https://glygen.org/publication/PubMed/33140045" } ], "site_lbl": "Ser88" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "23", "end_pos": "23" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "443", "end_pos": "446" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "488", "end_pos": "490" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "74", "end_pos": "75" }, { "start_pos": "789", "end_pos": "793" }, { "start_pos": "818", "end_pos": "822" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "841", "end_pos": "842" }, { "start_pos": "848", "end_pos": "849" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "snv", "site_list": [ { "start_pos": "238", "end_pos": "238" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "822", "end_pos": "822" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9BYX4-1.68.68", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9BYX4-1.74.75", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9BYX4-1.100.100", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9BYX4-1.238.238", "start_pos": 238, "end_pos": 238, "uniprot_canonical_ac": "Q9BYX4-1", "length": 1025, "uniprot_id": "IFIH1_HUMAN", "protein_name": "Interferon-induced helicase C domain-containing protein 1", "refseq_ac": "NP_071451", "refseq_name": "interferon-induced helicase C domain-containing protein 1", "gene_name": "IFIH1", "gene_names_uniprotkb": "IFIH1; MDA5; RH116", "gene_names_refseq": "AGS7; Hlcd; IDDM19; IFIH1; IMD95; MDA-5; MDA5; RLR-2; SGMRT1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BYX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BYX4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "PQVEEQLLSTTVQPNLEKEV", "down_seq": "GMENNSSESSFADSSVVSES", "snv": [ { "evidence": [ { "id": "Q9BYX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BYX4" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "W", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "162306764", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "W238", "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": "mutagenesis", "site_list": [ { "start_pos": "23", "end_pos": "23" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "443", "end_pos": "446" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "488", "end_pos": "490" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "74", "end_pos": "75" }, { "start_pos": "789", "end_pos": "793" }, { "start_pos": "818", "end_pos": "822" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "841", "end_pos": "842" }, { "start_pos": "848", "end_pos": "849" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "snv", "site_list": [ { "start_pos": "238", "end_pos": "238" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "822", "end_pos": "822" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "Q9BYX4-1.251.251", "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": "Q9BYX4-1.381.381", "start_pos": 381, "end_pos": 381, "uniprot_canonical_ac": "Q9BYX4-1", "length": 1025, "uniprot_id": "IFIH1_HUMAN", "protein_name": "Interferon-induced helicase C domain-containing protein 1", "refseq_ac": "NP_071451", "refseq_name": "interferon-induced helicase C domain-containing protein 1", "gene_name": "IFIH1", "gene_names_uniprotkb": "IFIH1; MDA5; RH116", "gene_names_refseq": "AGS7; Hlcd; IDDM19; IFIH1; IMD95; MDA-5; MDA5; RLR-2; SGMRT1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BYX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BYX4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "VLVNKVLLVEQLFRKEFQPF", "down_seq": "KKWYRVIGLSGDTQLKISFP", "snv": [ { "evidence": [ { "id": "Q9BYX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BYX4" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "11", "frequency": "0.6", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: patient count (11/1906).", "chr_id": "2", "chr_pos": "162282529", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L381", "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": "mutagenesis", "site_list": [ { "start_pos": "23", "end_pos": "23" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "443", "end_pos": "446" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "488", "end_pos": "490" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "74", "end_pos": "75" }, { "start_pos": "789", "end_pos": "793" }, { "start_pos": "818", "end_pos": "822" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "841", "end_pos": "842" }, { "start_pos": "848", "end_pos": "849" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "snv", "site_list": [ { "start_pos": "238", "end_pos": "238" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "822", "end_pos": "822" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "828", "end_pos": "828" }, { "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": "Q9BYX4-1.49.49", "start_pos": 49, "end_pos": 49, "uniprot_canonical_ac": "Q9BYX4-1", "length": 1025, "uniprot_id": "IFIH1_HUMAN", "protein_name": "Interferon-induced helicase C domain-containing protein 1", "refseq_ac": "NP_071451", "refseq_name": "interferon-induced helicase C domain-containing protein 1", "gene_name": "IFIH1", "gene_names_uniprotkb": "IFIH1; MDA5; RH116", "gene_names_refseq": "AGS7; Hlcd; IDDM19; IFIH1; IMD95; MDA-5; MDA5; RLR-2; SGMRT1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BYX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BYX4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "EPVLDYLTFLPAEVKEQIQR", "down_seq": "VATSGNMQAVELLLSTLEKG", "snv": [ { "evidence": [ { "id": "Q9BYX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BYX4" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "162318163", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T49", "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": "mutagenesis", "site_list": [ { "start_pos": "23", "end_pos": "23" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "443", "end_pos": "446" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "488", "end_pos": "490" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "74", "end_pos": "75" }, { "start_pos": "789", "end_pos": "793" }, { "start_pos": "818", "end_pos": "822" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "841", "end_pos": "842" }, { "start_pos": "848", "end_pos": "849" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "snv", "site_list": [ { "start_pos": "238", "end_pos": "238" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "822", "end_pos": "822" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q9BYX4-1.43.43", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9BYX4-1.68.68", "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": "Q9BYX4-1.618.618", "start_pos": 618, "end_pos": 618, "uniprot_canonical_ac": "Q9BYX4-1", "length": 1025, "uniprot_id": "IFIH1_HUMAN", "protein_name": "Interferon-induced helicase C domain-containing protein 1", "refseq_ac": "NP_071451", "refseq_name": "interferon-induced helicase C domain-containing protein 1", "gene_name": "IFIH1", "gene_names_uniprotkb": "IFIH1; MDA5; RH116", "gene_names_refseq": "AGS7; Hlcd; IDDM19; IFIH1; IMD95; MDA-5; MDA5; RLR-2; SGMRT1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BYX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BYX4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RVCAEHLRKYNEALQINDTI", "down_seq": "MIDAYTHLETFYNEEKDKKF", "snv": [ { "evidence": [ { "id": "Q9BYX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BYX4" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "2", "chr_pos": "162277607", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R618", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "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:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-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": "mutagenesis", "site_list": [ { "start_pos": "23", "end_pos": "23" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "443", "end_pos": "446" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "488", "end_pos": "490" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "74", "end_pos": "75" }, { "start_pos": "789", "end_pos": "793" }, { "start_pos": "818", "end_pos": "822" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "841", "end_pos": "842" }, { "start_pos": "848", "end_pos": "849" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "snv", "site_list": [ { "start_pos": "238", "end_pos": "238" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "822", "end_pos": "822" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "828", "end_pos": "828" }, { "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": "Q9BYX4-1.746.746", "start_pos": 746, "end_pos": 746, "uniprot_canonical_ac": "Q9BYX4-1", "length": 1025, "uniprot_id": "IFIH1_HUMAN", "protein_name": "Interferon-induced helicase C domain-containing protein 1", "refseq_ac": "NP_071451", "refseq_name": "interferon-induced helicase C domain-containing protein 1", "gene_name": "IFIH1", "gene_names_uniprotkb": "IFIH1; MDA5; RH116", "gene_names_refseq": "AGS7; Hlcd; IDDM19; IFIH1; IMD95; MDA-5; MDA5; RLR-2; SGMRT1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BYX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BYX4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "KTRQSAYALSQWITENEKFA", "down_seq": "VGVKAHHLIGAGHSSEFKPM", "snv": [ { "evidence": [ { "id": "Q9BYX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BYX4" } ], "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": "2", "chr_pos": "162276755", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E746", "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": "mutagenesis", "site_list": [ { "start_pos": "23", "end_pos": "23" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "443", "end_pos": "446" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "488", "end_pos": "490" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "74", "end_pos": "75" }, { "start_pos": "789", "end_pos": "793" }, { "start_pos": "818", "end_pos": "822" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "841", "end_pos": "842" }, { "start_pos": "848", "end_pos": "849" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "snv", "site_list": [ { "start_pos": "238", "end_pos": "238" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "822", "end_pos": "822" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "828", "end_pos": "828" }, { "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": "Q9BYX4-1.822.822", "start_pos": 822, "end_pos": 822, "uniprot_canonical_ac": "Q9BYX4-1", "length": 1025, "uniprot_id": "IFIH1_HUMAN", "protein_name": "Interferon-induced helicase C domain-containing protein 1", "refseq_ac": "NP_071451", "refseq_name": "interferon-induced helicase C domain-containing protein 1", "gene_name": "IFIH1", "gene_names_uniprotkb": "IFIH1; MDA5; RH116", "gene_names_refseq": "AGS7; Hlcd; IDDM19; IFIH1; IMD95; MDA-5; MDA5; RLR-2; SGMRT1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BYX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BYX4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NIVIRYGLVTNEIAMVQARG", "down_seq": "ARADESTYVLVAHSGSGVIE", "snv": [ { "evidence": [ { "id": "Q9BYX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BYX4" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "162272378", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R822", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "23", "end_pos": "23" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "443", "end_pos": "446" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "488", "end_pos": "490" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "74", "end_pos": "75" }, { "start_pos": "789", "end_pos": "793" }, { "start_pos": "818", "end_pos": "822" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "841", "end_pos": "842" }, { "start_pos": "848", "end_pos": "849" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "snv", "site_list": [ { "start_pos": "238", "end_pos": "238" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "822", "end_pos": "822" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 0, "direction": "downstream", "id": "Q9BYX4-1.818.822", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9BYX4-1.828.828", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9BYX4-1.829.829", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9BYX4-1.841.842", "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": "Q9BYX4-1.100.100", "start_pos": 100, "end_pos": 100, "uniprot_canonical_ac": "Q9BYX4-1", "length": 1025, "uniprot_id": "IFIH1_HUMAN", "protein_name": "Interferon-induced helicase C domain-containing protein 1", "refseq_ac": "NP_071451", "refseq_name": "interferon-induced helicase C domain-containing protein 1", "gene_name": "IFIH1", "gene_names_uniprotkb": "IFIH1; MDA5; RH116", "gene_names_refseq": "AGS7; Hlcd; IDDM19; IFIH1; IMD95; MDA-5; MDA5; RLR-2; SGMRT1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "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": "Q9BYX4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BYX4-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q9BYX4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BYX4", "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": "VEALRRTGSPLAARYMNPEL", "down_seq": "DLPSPSFENAHDEYLQLLNL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9BYX4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BYX4" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr100" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "23", "end_pos": "23" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "443", "end_pos": "446" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "488", "end_pos": "490" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "74", "end_pos": "75" }, { "start_pos": "789", "end_pos": "793" }, { "start_pos": "818", "end_pos": "822" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "841", "end_pos": "842" }, { "start_pos": "848", "end_pos": "849" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "snv", "site_list": [ { "start_pos": "238", "end_pos": "238" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "822", "end_pos": "822" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q9BYX4-1.88.88", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9BYX4-1.289.289", "start_pos": 289, "end_pos": 289, "uniprot_canonical_ac": "Q9BYX4-1", "length": 1025, "uniprot_id": "IFIH1_HUMAN", "protein_name": "Interferon-induced helicase C domain-containing protein 1", "refseq_ac": "NP_071451", "refseq_name": "interferon-induced helicase C domain-containing protein 1", "gene_name": "IFIH1", "gene_names_uniprotkb": "IFIH1; MDA5; RH116", "gene_names_refseq": "AGS7; Hlcd; IDDM19; IFIH1; IMD95; MDA-5; MDA5; RLR-2; SGMRT1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "CLDESLGHNSNMGSDSGTMG", "down_seq": "DSDEENVAARASPEPELQLR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "site_lbl": "Ser289" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "23", "end_pos": "23" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "443", "end_pos": "446" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "488", "end_pos": "490" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "74", "end_pos": "75" }, { "start_pos": "789", "end_pos": "793" }, { "start_pos": "818", "end_pos": "822" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "841", "end_pos": "842" }, { "start_pos": "848", "end_pos": "849" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "snv", "site_list": [ { "start_pos": "238", "end_pos": "238" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "822", "end_pos": "822" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9BYX4-1.291.291", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9BYX4-1.301.301", "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": "Q9BYX4-1.291.291", "start_pos": 291, "end_pos": 291, "uniprot_canonical_ac": "Q9BYX4-1", "length": 1025, "uniprot_id": "IFIH1_HUMAN", "protein_name": "Interferon-induced helicase C domain-containing protein 1", "refseq_ac": "NP_071451", "refseq_name": "interferon-induced helicase C domain-containing protein 1", "gene_name": "IFIH1", "gene_names_uniprotkb": "IFIH1; MDA5; RH116", "gene_names_refseq": "AGS7; Hlcd; IDDM19; IFIH1; IMD95; MDA-5; MDA5; RLR-2; SGMRT1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DESLGHNSNMGSDSGTMGSD", "down_seq": "DEENVAARASPEPELQLRPY", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "site_lbl": "Ser291" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "23", "end_pos": "23" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "443", "end_pos": "446" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "488", "end_pos": "490" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "74", "end_pos": "75" }, { "start_pos": "789", "end_pos": "793" }, { "start_pos": "818", "end_pos": "822" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "841", "end_pos": "842" }, { "start_pos": "848", "end_pos": "849" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "snv", "site_list": [ { "start_pos": "238", "end_pos": "238" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "822", "end_pos": "822" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9BYX4-1.289.289", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9BYX4-1.301.301", "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": "Q9BYX4-1.301.301", "start_pos": 301, "end_pos": 301, "uniprot_canonical_ac": "Q9BYX4-1", "length": 1025, "uniprot_id": "IFIH1_HUMAN", "protein_name": "Interferon-induced helicase C domain-containing protein 1", "refseq_ac": "NP_071451", "refseq_name": "interferon-induced helicase C domain-containing protein 1", "gene_name": "IFIH1", "gene_names_uniprotkb": "IFIH1; MDA5; RH116", "gene_names_refseq": "AGS7; Hlcd; IDDM19; IFIH1; IMD95; MDA-5; MDA5; RLR-2; SGMRT1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GSDSGTMGSDSDEENVAARA", "down_seq": "PEPELQLRPYQMEVAQPALE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "site_lbl": "Ser301" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "23", "end_pos": "23" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "443", "end_pos": "446" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "488", "end_pos": "490" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "74", "end_pos": "75" }, { "start_pos": "789", "end_pos": "793" }, { "start_pos": "818", "end_pos": "822" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "841", "end_pos": "842" }, { "start_pos": "848", "end_pos": "849" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "snv", "site_list": [ { "start_pos": "238", "end_pos": "238" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "822", "end_pos": "822" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q9BYX4-1.289.289", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9BYX4-1.291.291", "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": "Q9BYX4-1.645.645", "start_pos": 645, "end_pos": 645, "uniprot_canonical_ac": "Q9BYX4-1", "length": 1025, "uniprot_id": "IFIH1_HUMAN", "protein_name": "Interferon-induced helicase C domain-containing protein 1", "refseq_ac": "NP_071451", "refseq_name": "interferon-induced helicase C domain-containing protein 1", "gene_name": "IFIH1", "gene_names_uniprotkb": "IFIH1; MDA5; RH116", "gene_names_refseq": "AGS7; Hlcd; IDDM19; IFIH1; IMD95; MDA-5; MDA5; RLR-2; SGMRT1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "HLETFYNEEKDKKFAVIEDD", "down_seq": "DEGGDDEYCDGDEDEDDLKK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9BYX4", "url": "https://www.uniprot.org/uniprotkb/Q9BYX4" } ], "site_lbl": "Ser645" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "23", "end_pos": "23" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "443", "end_pos": "446" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "488", "end_pos": "490" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "74", "end_pos": "75" }, { "start_pos": "789", "end_pos": "793" }, { "start_pos": "818", "end_pos": "822" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "841", "end_pos": "842" }, { "start_pos": "848", "end_pos": "849" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "snv", "site_list": [ { "start_pos": "238", "end_pos": "238" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "746", "end_pos": "746" }, { "start_pos": "822", "end_pos": "822" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "828", "end_pos": "828" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H7X7-1.26.26", "start_pos": 26, "end_pos": 26, "uniprot_canonical_ac": "Q9H7X7-1", "length": 185, "uniprot_id": "IFT22_HUMAN", "protein_name": "Intraflagellar transport protein 22 homolog", "refseq_ac": "NP_001124292", "refseq_name": "intraflagellar transport protein 22 homolog isoform b", "gene_name": "IFT22", "gene_names_uniprotkb": "IFT22; RABL5", "gene_names_refseq": "CFAP9; FAP9; IFT22; RABL5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H7X7", "url": "https://www.uniprot.org/uniprotkb/Q9H7X7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H7X7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H7X7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ILFVGPCESGKTVLANFLTE", "down_seq": "SDITEYSPTQGVRILEFENP", "snv": [ { "evidence": [ { "id": "Q9H7X7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H7X7" } ], "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": "7", "chr_pos": "101318995", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S26", "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": "26", "end_pos": "26" }, { "start_pos": "96", "end_pos": "96" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "137", "end_pos": "137" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H7X7-1.96.96", "start_pos": 96, "end_pos": 96, "uniprot_canonical_ac": "Q9H7X7-1", "length": 185, "uniprot_id": "IFT22_HUMAN", "protein_name": "Intraflagellar transport protein 22 homolog", "refseq_ac": "NP_001124292", "refseq_name": "intraflagellar transport protein 22 homolog isoform b", "gene_name": "IFT22", "gene_names_uniprotkb": "IFT22; RABL5", "gene_names_refseq": "CFAP9; FAP9; IFT22; RABL5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H7X7", "url": "https://www.uniprot.org/uniprotkb/Q9H7X7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H7X7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H7X7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ALMKDAHGVVIVFNADIPSH", "down_seq": "KEMEMWYSCFVQQPSLQDTQ", "snv": [ { "evidence": [ { "id": "Q9H7X7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H7X7" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "101316463", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R96", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "26", "end_pos": "26" }, { "start_pos": "96", "end_pos": "96" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "137", "end_pos": "137" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H7X7-1.137.137", "start_pos": 137, "end_pos": 137, "uniprot_canonical_ac": "Q9H7X7-1", "length": 185, "uniprot_id": "IFT22_HUMAN", "protein_name": "Intraflagellar transport protein 22 homolog", "refseq_ac": "NP_001124292", "refseq_name": "intraflagellar transport protein 22 homolog isoform b", "gene_name": "IFT22", "gene_names_uniprotkb": "IFT22; RABL5", "gene_names_refseq": "CFAP9; FAP9; IFT22; RABL5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H7X7", "url": "https://www.uniprot.org/uniprotkb/Q9H7X7" } ], "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": "Q9H7X7", "url": "https://www.uniprot.org/uniprotkb/Q9H7X7" }, { "database": "iPTMnet", "id": "Q9H7X7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H7X7" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q9H7X7", "url": "https://www.uniprot.org/uniprotkb/Q9H7X7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9H7X7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H7X7", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "CMLIAHHKPGSGDDKGSLSL", "down_seq": "PPLNKLKLVHSNLEDDPEEI", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9H7X7", "url": "https://www.uniprot.org/uniprotkb/Q9H7X7" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9H7X7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H7X7" } ], "site_lbl": "Ser137" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "26", "end_pos": "26" }, { "start_pos": "96", "end_pos": "96" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "137", "end_pos": "137" } ] } ], "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": "Q9NQ87-1.165.165", "start_pos": 165, "end_pos": 165, "uniprot_canonical_ac": "Q9NQ87-1", "length": 328, "uniprot_id": "HEYL_HUMAN", "protein_name": "Hairy/enhancer-of-split related with YRPW motif-like protein", "refseq_ac": "NP_055386", "refseq_name": "hairy/enhancer-of-split related with YRPW motif-like protein", "gene_name": "HEYL", "gene_names_uniprotkb": "HEYL; BHLHB33; HRT3", "gene_names_refseq": "HESR3; HEY3; HEYL; HRT3; bHLHb33", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQ87", "url": "https://www.uniprot.org/uniprotkb/Q9NQ87" } ], "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": "rs1646303596", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1646303596", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1646303596", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1646303596#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "Q9NQ87", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQ87", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs368302386", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368302386", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs368302386", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368302386", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs368302386", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368302386#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs368302386", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368302386", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "VRIRLLSHLNSYAAEMEPSP", "down_seq": "PTGPLAFPAWPWSFFHSCPG", "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": "Thr165", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs1646303596", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1646303596" }, { "id": "rs1646303596", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1646303596#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "1", "chr_pos": "39627001", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T165", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9NQ87", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQ87" }, { "id": "rs368302386", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368302386" }, { "id": "rs368302386", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368302386" }, { "id": "rs368302386", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368302386#frequency_tab" }, { "id": "rs368302386", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368302386" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "3601", "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": "1", "chr_pos": "39627000", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T165", "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", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "35", "end_pos": "35" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "8", "end_pos": "8" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9NQ87-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NQ87-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NQ87-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NQ87-1.159.159", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "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": "Q9NQ87-1.282.282", "start_pos": 282, "end_pos": 282, "uniprot_canonical_ac": "Q9NQ87-1", "length": 328, "uniprot_id": "HEYL_HUMAN", "protein_name": "Hairy/enhancer-of-split related with YRPW motif-like protein", "refseq_ac": "NP_055386", "refseq_name": "hairy/enhancer-of-split related with YRPW motif-like protein", "gene_name": "HEYL", "gene_names_uniprotkb": "HEYL; BHLHB33; HRT3", "gene_names_refseq": "HESR3; HEY3; HEYL; HRT3; bHLHb33", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQ87", "url": "https://www.uniprot.org/uniprotkb/Q9NQ87" } ], "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": "rs992564845", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs992564845", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs992564845", "url": "https://www.ncbi.nlm.nih.gov/snp/rs992564845#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs992564845", "url": "http://gnomad.broadinstitute.org/awesome?query=rs992564845", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1205968369", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1205968369", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1205968369", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1205968369", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PSSRAARSSHIAPLLQSSSP", "down_seq": "PPGPTGSAAYVAVPTPNSSS", "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": "Thr282", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs992564845", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs992564845" }, { "id": "rs992564845", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs992564845#frequency_tab" }, { "id": "rs992564845", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs992564845" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "1", "chr_pos": "39626650", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T282", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1205968369", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1205968369" }, { "id": "rs1205968369", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1205968369" } ], "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": "1", "chr_pos": "39626649", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T282", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "35", "end_pos": "35" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "8", "end_pos": "8" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q9NQ87-1.287.287", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NQ87-1.287.287", "start_pos": 287, "end_pos": 287, "uniprot_canonical_ac": "Q9NQ87-1", "length": 328, "uniprot_id": "HEYL_HUMAN", "protein_name": "Hairy/enhancer-of-split related with YRPW motif-like protein", "refseq_ac": "NP_055386", "refseq_name": "hairy/enhancer-of-split related with YRPW motif-like protein", "gene_name": "HEYL", "gene_names_uniprotkb": "HEYL; BHLHB33; HRT3", "gene_names_refseq": "HESR3; HEY3; HEYL; HRT3; bHLHb33", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQ87", "url": "https://www.uniprot.org/uniprotkb/Q9NQ87" } ], "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": "rs1389410443", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1389410443", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1389410443", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1389410443", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ARSSHIAPLLQSSSPTPPGP", "down_seq": "GSAAYVAVPTPNSSSPGPAG", "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": "Thr287", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs1389410443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1389410443" }, { "id": "rs1389410443", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1389410443" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "1", "chr_pos": "39626635", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T287", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "35", "end_pos": "35" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "8", "end_pos": "8" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q9NQ87-1.282.282", "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": "Q9NQ87-1.35.35", "start_pos": 35, "end_pos": 35, "uniprot_canonical_ac": "Q9NQ87-1", "length": 328, "uniprot_id": "HEYL_HUMAN", "protein_name": "Hairy/enhancer-of-split related with YRPW motif-like protein", "refseq_ac": "NP_055386", "refseq_name": "hairy/enhancer-of-split related with YRPW motif-like protein", "gene_name": "HEYL", "gene_names_uniprotkb": "HEYL; BHLHB33; HRT3", "gene_names_refseq": "HESR3; HEY3; HEYL; HRT3; bHLHb33", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQ87", "url": "https://www.uniprot.org/uniprotkb/Q9NQ87" } ], "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": "rs771106304", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771106304", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs771106304", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771106304", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs771106304", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771106304", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "DGPIDVGQEGQLSQMARPLS", "down_seq": "PSSSQMQARKKHRGIIEKRR", "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": "Thr35", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs771106304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771106304" }, { "id": "rs771106304", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771106304" }, { "id": "rs771106304", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771106304" } ], "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": "1", "chr_pos": "39632692", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T35", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "35", "end_pos": "35" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "8", "end_pos": "8" } ] } ], "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NQ87-1.141.141", "start_pos": 141, "end_pos": 141, "uniprot_canonical_ac": "Q9NQ87-1", "length": 328, "uniprot_id": "HEYL_HUMAN", "protein_name": "Hairy/enhancer-of-split related with YRPW motif-like protein", "refseq_ac": "NP_055386", "refseq_name": "hairy/enhancer-of-split related with YRPW motif-like protein", "gene_name": "HEYL", "gene_names_uniprotkb": "HEYL; BHLHB33; HRT3", "gene_names_refseq": "HESR3; HEY3; HEYL; HRT3; bHLHb33", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQ87", "url": "https://www.uniprot.org/uniprotkb/Q9NQ87" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NQ87", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQ87", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FRECLTEVIRYLGVLEGPSS", "down_seq": "ADPVRIRLLSHLNSYAAEME", "snv": [ { "evidence": [ { "id": "Q9NQ87", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQ87" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "39627073", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R141", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q9NQ87", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQ87" } ], "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 (4).", "chr_id": "1", "chr_pos": "39627072", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R141", "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:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/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": "165", "end_pos": "165" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "35", "end_pos": "35" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "8", "end_pos": "8" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q9NQ87-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NQ87-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NQ87-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NQ87-1.159.159", "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": 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": "Q9NQ87-1.145.145", "start_pos": 145, "end_pos": 145, "uniprot_canonical_ac": "Q9NQ87-1", "length": 328, "uniprot_id": "HEYL_HUMAN", "protein_name": "Hairy/enhancer-of-split related with YRPW motif-like protein", "refseq_ac": "NP_055386", "refseq_name": "hairy/enhancer-of-split related with YRPW motif-like protein", "gene_name": "HEYL", "gene_names_uniprotkb": "HEYL; BHLHB33; HRT3", "gene_names_refseq": "HESR3; HEY3; HEYL; HRT3; bHLHb33", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQ87", "url": "https://www.uniprot.org/uniprotkb/Q9NQ87" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NQ87", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQ87", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "LTEVIRYLGVLEGPSSRADP", "down_seq": "RIRLLSHLNSYAAEMEPSPT", "snv": [ { "evidence": [ { "id": "Q9NQ87", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQ87" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "39627061", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V145", "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": "165", "end_pos": "165" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "35", "end_pos": "35" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "8", "end_pos": "8" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q9NQ87-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NQ87-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NQ87-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NQ87-1.159.159", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NQ87-1.165.165", "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": "Q9NQ87-1.148.148", "start_pos": 148, "end_pos": 148, "uniprot_canonical_ac": "Q9NQ87-1", "length": 328, "uniprot_id": "HEYL_HUMAN", "protein_name": "Hairy/enhancer-of-split related with YRPW motif-like protein", "refseq_ac": "NP_055386", "refseq_name": "hairy/enhancer-of-split related with YRPW motif-like protein", "gene_name": "HEYL", "gene_names_uniprotkb": "HEYL; BHLHB33; HRT3", "gene_names_refseq": "HESR3; HEY3; HEYL; HRT3; bHLHb33", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQ87", "url": "https://www.uniprot.org/uniprotkb/Q9NQ87" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NQ87", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQ87", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VIRYLGVLEGPSSRADPVRI", "down_seq": "LLSHLNSYAAEMEPSPTPTG", "snv": [ { "evidence": [ { "id": "Q9NQ87", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQ87" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "39627052", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R148", "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": "165", "end_pos": "165" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "35", "end_pos": "35" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "8", "end_pos": "8" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9NQ87-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NQ87-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NQ87-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NQ87-1.159.159", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NQ87-1.165.165", "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": "Q9NQ87-1.156.156", "start_pos": 156, "end_pos": 156, "uniprot_canonical_ac": "Q9NQ87-1", "length": 328, "uniprot_id": "HEYL_HUMAN", "protein_name": "Hairy/enhancer-of-split related with YRPW motif-like protein", "refseq_ac": "NP_055386", "refseq_name": "hairy/enhancer-of-split related with YRPW motif-like protein", "gene_name": "HEYL", "gene_names_uniprotkb": "HEYL; BHLHB33; HRT3", "gene_names_refseq": "HESR3; HEY3; HEYL; HRT3; bHLHb33", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQ87", "url": "https://www.uniprot.org/uniprotkb/Q9NQ87" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1570438052", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1570438052", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1570438052", "url": "https://www.ensembl.org/id/rs1570438052", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "EGPSSRADPVRIRLLSHLNS", "down_seq": "AAEMEPSPTPTGPLAFPAWP", "snv": [ { "evidence": [ { "id": "rs1570438052", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1570438052" }, { "id": "rs1570438052", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1570438052" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSY->NSS).", "chr_id": "1", "chr_pos": "39627027", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y156", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "35", "end_pos": "35" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "8", "end_pos": "8" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9NQ87-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NQ87-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NQ87-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NQ87-1.159.159", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NQ87-1.165.165", "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": "Q9NQ87-1.159.159", "start_pos": 159, "end_pos": 159, "uniprot_canonical_ac": "Q9NQ87-1", "length": 328, "uniprot_id": "HEYL_HUMAN", "protein_name": "Hairy/enhancer-of-split related with YRPW motif-like protein", "refseq_ac": "NP_055386", "refseq_name": "hairy/enhancer-of-split related with YRPW motif-like protein", "gene_name": "HEYL", "gene_names_uniprotkb": "HEYL; BHLHB33; HRT3", "gene_names_refseq": "HESR3; HEY3; HEYL; HRT3; bHLHb33", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQ87", "url": "https://www.uniprot.org/uniprotkb/Q9NQ87" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NQ87", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQ87", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "SSRADPVRIRLLSHLNSYAA", "down_seq": "MEPSPTPTGPLAFPAWPWSF", "snv": [ { "evidence": [ { "id": "Q9NQ87", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQ87" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "39627019", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E159", "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": "165", "end_pos": "165" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "35", "end_pos": "35" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "8", "end_pos": "8" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9NQ87-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NQ87-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NQ87-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NQ87-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NQ87-1.165.165", "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": "Q9NQ87-1.218.218", "start_pos": 218, "end_pos": 218, "uniprot_canonical_ac": "Q9NQ87-1", "length": 328, "uniprot_id": "HEYL_HUMAN", "protein_name": "Hairy/enhancer-of-split related with YRPW motif-like protein", "refseq_ac": "NP_055386", "refseq_name": "hairy/enhancer-of-split related with YRPW motif-like protein", "gene_name": "HEYL", "gene_names_uniprotkb": "HEYL; BHLHB33; HRT3", "gene_names_refseq": "HESR3; HEY3; HEYL; HRT3; bHLHb33", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQ87", "url": "https://www.uniprot.org/uniprotkb/Q9NQ87" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NQ87", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQ87", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RVPSPVLPGVSSPAYPIPAL", "down_seq": "TAPLRRATGIILPARRNVLP", "snv": [ { "evidence": [ { "id": "Q9NQ87", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQ87" } ], "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": "1", "chr_pos": "39626842", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R218", "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": "165", "end_pos": "165" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "35", "end_pos": "35" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "8", "end_pos": "8" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NQ87-1.58.58", "start_pos": 58, "end_pos": 58, "uniprot_canonical_ac": "Q9NQ87-1", "length": 328, "uniprot_id": "HEYL_HUMAN", "protein_name": "Hairy/enhancer-of-split related with YRPW motif-like protein", "refseq_ac": "NP_055386", "refseq_name": "hairy/enhancer-of-split related with YRPW motif-like protein", "gene_name": "HEYL", "gene_names_uniprotkb": "HEYL; BHLHB33; HRT3", "gene_names_refseq": "HESR3; HEY3; HEYL; HRT3; bHLHb33", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQ87", "url": "https://www.uniprot.org/uniprotkb/Q9NQ87" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NQ87", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQ87", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SSQMQARKKHRGIIEKRRRD", "down_seq": "INSSLSELRRLVPTAFEKQG", "snv": [ { "evidence": [ { "id": "Q9NQ87", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQ87" } ], "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": "1", "chr_pos": "39631554", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R58", "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: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": "165", "end_pos": "165" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "35", "end_pos": "35" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "8", "end_pos": "8" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NQ87-1.8.8", "start_pos": 8, "end_pos": 8, "uniprot_canonical_ac": "Q9NQ87-1", "length": 328, "uniprot_id": "HEYL_HUMAN", "protein_name": "Hairy/enhancer-of-split related with YRPW motif-like protein", "refseq_ac": "NP_055386", "refseq_name": "hairy/enhancer-of-split related with YRPW motif-like protein", "gene_name": "HEYL", "gene_names_uniprotkb": "HEYL; BHLHB33; HRT3", "gene_names_refseq": "HESR3; HEY3; HEYL; HRT3; bHLHb33", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQ87", "url": "https://www.uniprot.org/uniprotkb/Q9NQ87" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1238100969", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1238100969", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1238100969", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1238100969#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1238100969", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1238100969", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MKRPKEP", "down_seq": "GSDGESDGPIDVGQEGQLSQ", "snv": [ { "evidence": [ { "id": "rs1238100969", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1238100969" }, { "id": "rs1238100969", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1238100969#frequency_tab" }, { "id": "rs1238100969", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1238100969" } ], "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": "1", "chr_pos": "39639603", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S8", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "35", "end_pos": "35" } ] }, { "type": "snv", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "8", "end_pos": "8" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NQE9-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q9NQE9-1", "length": 182, "uniprot_id": "HINT3_HUMAN", "protein_name": "Adenosine 5'-monophosphoramidase HINT3", "refseq_ac": "NP_612638", "refseq_name": "adenosine 5'-monophosphoramidase HINT3", "gene_name": "HINT3", "gene_names_uniprotkb": "HINT3", "gene_names_refseq": "HINT3; HINT4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQE9", "url": "https://www.uniprot.org/uniprotkb/Q9NQE9" } ], "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": "Q9NQE9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NQE9" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "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": "Q9NQE9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NQE9" } ], "reference": [ { "type": "PubMed", "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NQE9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NQE9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866", "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": "Q9NQE9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NQE9" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "145", "end_pos": "145" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "38", "end_pos": "38" } ] } ], "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": "Q9NQE9-1.145.145", "start_pos": 145, "end_pos": 145, "uniprot_canonical_ac": "Q9NQE9-1", "length": 182, "uniprot_id": "HINT3_HUMAN", "protein_name": "Adenosine 5'-monophosphoramidase HINT3", "refseq_ac": "NP_612638", "refseq_name": "adenosine 5'-monophosphoramidase HINT3", "gene_name": "HINT3", "gene_names_uniprotkb": "HINT3", "gene_names_refseq": "HINT3; HINT4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQE9", "url": "https://www.uniprot.org/uniprotkb/Q9NQE9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Evidence that human histidine triad nucleotide binding protein 3 (Hint3) is a distinct branch of the histidine triad (HIT) superfamily.", "journal": "Journal of molecular biology", "date": "2007", "authors": "Chou TF, Cheng J, Tikh IB, Wagner CR", "evidence": [ { "database": "UniProtKB", "id": "Q9NQE9", "url": "https://www.uniprot.org/uniprotkb/Q9NQE9" }, { "database": "RefSeq", "id": "NP_612638", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612638" } ], "reference": [ { "type": "PubMed", "id": "17870088", "url": "https://glygen.org/publication/PubMed/17870088" } ] } ], "crossref": [ { "id": "Q9NQE9", "url": "https://www.uniprot.org/uniprotkb/Q9NQE9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "17870088", "url": "https://glygen.org/publication/PubMed/17870088", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "DFTNVRMGFHMPPFCSISHL", "down_seq": "LHVLAPVDQLGFLSKLVYRV", "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Abolishes adenosine 5'-monophosphoramidase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQE9", "url": "https://www.uniprot.org/uniprotkb/Q9NQE9" }, { "database": "PubMed", "id": "17870088", "url": "https://glygen.org/publication/PubMed/17870088" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "145", "end_pos": "145" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "38", "end_pos": "38" } ] } ], "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": "Q9NQE9-1.38.38", "start_pos": 38, "end_pos": 38, "uniprot_canonical_ac": "Q9NQE9-1", "length": 182, "uniprot_id": "HINT3_HUMAN", "protein_name": "Adenosine 5'-monophosphoramidase HINT3", "refseq_ac": "NP_612638", "refseq_name": "adenosine 5'-monophosphoramidase HINT3", "gene_name": "HINT3", "gene_names_uniprotkb": "HINT3", "gene_names_refseq": "HINT3; HINT4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQE9", "url": "https://www.uniprot.org/uniprotkb/Q9NQE9" } ], "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": "Q9NQE9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NQE9" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q9NQE9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NQE9", "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": "ASATAETTVSSVGTCEAAGK", "down_seq": "PEPKDYDSTCVFCRIAGRQD", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NQE9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NQE9" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser38" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "145", "end_pos": "145" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "38", "end_pos": "38" } ] } ], "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": "Q9Y241-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q9Y241-1", "length": 93, "uniprot_id": "HIG1A_HUMAN", "protein_name": "HIG1 domain family member 1A, mitochondrial", "refseq_ac": "NP_001093138", "refseq_name": "HIG1 domain family member 1A, mitochondrial isoform a", "gene_name": "HIGD1A", "gene_names_uniprotkb": "HIGD1A; HIG1; HSPC010", "gene_names_refseq": "HIG1; HIGD1A; RCF1a", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y241", "url": "https://www.uniprot.org/uniprotkb/Q9Y241" } ], "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": "Q9Y241", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y241" } ], "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": "Q9Y241", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y241", "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": "Q9Y241", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y241" } ] } ], "all_sites": [ { "type": "phosphorylation", "site_list": [ { "start_pos": "8", "end_pos": "8" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q9Y241-1.8.8", "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": "Q9Y241-1.8.8", "start_pos": 8, "end_pos": 8, "uniprot_canonical_ac": "Q9Y241-1", "length": 93, "uniprot_id": "HIG1A_HUMAN", "protein_name": "HIG1 domain family member 1A, mitochondrial", "refseq_ac": "NP_001093138", "refseq_name": "HIG1 domain family member 1A, mitochondrial isoform a", "gene_name": "HIGD1A", "gene_names_uniprotkb": "HIGD1A; HIG1; HSPC010", "gene_names_refseq": "HIG1; HIGD1A; RCF1a", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y241", "url": "https://www.uniprot.org/uniprotkb/Q9Y241" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y241", "url": "https://www.uniprot.org/uniprotkb/Q9Y241", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MSTDTGV", "down_seq": "LPSYEEDQGSKLIRKAKEAP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9Y241", "url": "https://www.uniprot.org/uniprotkb/Q9Y241" } ], "site_lbl": "Ser8" } ], "all_sites": [ { "type": "phosphorylation", "site_list": [ { "start_pos": "8", "end_pos": "8" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q9Y241-1.0.0", "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": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y6W8-1.110.110", "start_pos": 110, "end_pos": 110, "uniprot_canonical_ac": "Q9Y6W8-1", "length": 199, "uniprot_id": "ICOS_HUMAN", "protein_name": "Inducible T-cell costimulator", "refseq_ac": "NP_036224", "refseq_name": "inducible T-cell costimulator precursor", "gene_name": "ICOS", "gene_names_uniprotkb": "ICOS; AILIM", "gene_names_refseq": "AILIM; CD278; CVID1; ICOS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y6W8", "url": "https://www.uniprot.org/uniprotkb/Q9Y6W8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structural characterization of the ICOS/ICOS-L immune complex reveals high molecular mimicry by therapeutic antibodies.", "journal": "Nature communications", "date": "2020", "authors": "Rujas E, Cui H, Sicard T, Semesi A, Julien JP", "evidence": [ { "database": "UniProtKB", "id": "Q9Y6W8", "url": "https://www.uniprot.org/uniprotkb/Q9Y6W8#ptm_processing" }, { "database": "UniProtKB", "id": "Q9Y6W8", "url": "https://www.uniprot.org/uniprotkb/Q9Y6W8" } ], "reference": [ { "type": "PubMed", "id": "33033255", "url": "https://glygen.org/publication/PubMed/33033255" } ] } ], "crossref": [ { "id": "6X4G", "url": "https://www.rcsb.org/structure/6X4G", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6X4G|A|110", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "Q9Y6W8", "url": "https://www.uniprot.org/uniprotkb/Q9Y6W8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "7JOO", "url": "https://www.rcsb.org/structure/7JOO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "33033255", "url": "https://glygen.org/publication/PubMed/33033255", "database": "PubMed", "categories": [ "Other" ] }, { "id": "7JOO|C|110", "url": "", "database": "", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "NSVSFFLYNLDHSHANYYFC", "down_seq": "LSIFDPPPFKVTLTGGYLHI", "glycosylation": [ { "glytoucan_ac": "G22768VO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=6X4G&bu=0&command=select+.A:110;+center+selection;+zoom+selection" }, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn110", "evidence": [ { "id": "6X4G", "database": "PDB", "url": "https://www.rcsb.org/structure/6X4G" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=7JOO&bu=0&command=select+.C:110;+center+selection;+zoom+selection" }, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn110", "evidence": [ { "id": "Q9Y6W8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9Y6W8#ptm_processing" }, { "id": "7JOO", "database": "PDB", "url": "https://www.rcsb.org/sequence/7JOO" }, { "id": "33033255", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33033255" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "Q", "comment": "About 4.3-fold improvement in binding affinity to ICOSLG.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y6W8", "url": "https://www.uniprot.org/uniprotkb/Q9Y6W8" }, { "database": "PubMed", "id": "33033255", "url": "https://glygen.org/publication/PubMed/33033255" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "glycosylation_flag", "mutagenesis_flag" ], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y6W8-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y6W8-1.120.120", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "icn3d_view.label", "icn3d_view.url", "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", "icn3d_view.label", "icn3d_view.url", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "icn3d_view.label", "icn3d_view.url", "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": "Q9Y6W8-1.89.89", "start_pos": 89, "end_pos": 89, "uniprot_canonical_ac": "Q9Y6W8-1", "length": 199, "uniprot_id": "ICOS_HUMAN", "protein_name": "Inducible T-cell costimulator", "refseq_ac": "NP_036224", "refseq_name": "inducible T-cell costimulator precursor", "gene_name": "ICOS", "gene_names_uniprotkb": "ICOS; AILIM", "gene_names_refseq": "AILIM; CD278; CVID1; ICOS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y6W8", "url": "https://www.uniprot.org/uniprotkb/Q9Y6W8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structural characterization of the ICOS/ICOS-L immune complex reveals high molecular mimicry by therapeutic antibodies.", "journal": "Nature communications", "date": "2020", "authors": "Rujas E, Cui H, Sicard T, Semesi A, Julien JP", "evidence": [ { "database": "UniProtKB", "id": "Q9Y6W8", "url": "https://www.uniprot.org/uniprotkb/Q9Y6W8#ptm_processing" }, { "database": "UniProtKB", "id": "Q9Y6W8", "url": "https://www.uniprot.org/uniprotkb/Q9Y6W8" } ], "reference": [ { "type": "PubMed", "id": "33033255", "url": "https://glygen.org/publication/PubMed/33033255" } ] }, { "title": "Definitive evidence that a single N-glycan among three glycans on inducible costimulator is required for proper protein trafficking and ligand binding.", "journal": "Biochemical and biophysical research communications", "date": "2010", "authors": "Kamei N, Fukui R, Suzuki Y, Kajihara Y, Kinoshita M, Kakehi K, Hojo H, Tezuka K, Tsuji T", "evidence": [ { "database": "GlyGen", "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481" } ], "reference": [ { "type": "PubMed", "id": "19931508", "url": "https://glygen.org/publication/PubMed/19931508" } ] } ], "crossref": [ { "id": "Q9Y6W8", "url": "https://www.uniprot.org/uniprotkb/Q9Y6W8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "6X4G", "url": "https://www.rcsb.org/structure/6X4G", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "33033255", "url": "https://glygen.org/publication/PubMed/33033255", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19931508", "url": "https://glygen.org/publication/PubMed/19931508", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "6X4G|A|89", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "rs1690068323", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1690068323", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1690068323", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1690068323", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9Y6W8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y6W8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "KGSGNTVSIKSLKFCHSQLS", "down_seq": "NSVSFFLYNLDHSHANYYFC", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true, "automatic_literature_mining": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=6X4G&bu=0&command=select+.A:89;+center+selection;+zoom+selection" }, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn89", "evidence": [ { "id": "Q9Y6W8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9Y6W8#ptm_processing" }, { "id": "6X4G", "database": "PDB", "url": "https://www.rcsb.org/sequence/6X4G" }, { "id": "33033255", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33033255" }, { "id": "19931508", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19931508" }, { "id": "GLY_000481", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000481" } ], "mining_tool": "RLIMS-G_1.0", "mining_tool_list": [ { "label": "RLIMS-G_1.0" } ] } ], "snv": [ { "evidence": [ { "id": "rs1690068323", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1690068323" }, { "id": "rs1690068323", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1690068323" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NNS->DNS).", "chr_id": "2", "chr_pos": "203955842", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N89", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y6W8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y6W8" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NNS->SNS).", "chr_id": "2", "chr_pos": "203955843", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N89", "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": "110", "end_pos": "110" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9Y6W8-1.91.91", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "icn3d_view.label", "icn3d_view.url", "start_aa", "end_aa", "residue", "site_lbl", "mining_tool" ] }, { "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", "icn3d_view.label", "icn3d_view.url", "start_aa", "end_aa", "residue", "site_lbl", "mining_tool" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "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", "icn3d_view.label", "icn3d_view.url", "start_aa", "end_aa", "residue", "site_lbl", "mining_tool" ] }, { "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": "Q9Y6W8-1.120.120", "start_pos": 120, "end_pos": 120, "uniprot_canonical_ac": "Q9Y6W8-1", "length": 199, "uniprot_id": "ICOS_HUMAN", "protein_name": "Inducible T-cell costimulator", "refseq_ac": "NP_036224", "refseq_name": "inducible T-cell costimulator precursor", "gene_name": "ICOS", "gene_names_uniprotkb": "ICOS; AILIM", "gene_names_refseq": "AILIM; CD278; CVID1; ICOS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y6W8", "url": "https://www.uniprot.org/uniprotkb/Q9Y6W8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs748862555", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748862555", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748862555", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748862555", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748862555", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748862555", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "DHSHANYYFCNLSIFDPPPF", "down_seq": "VTLTGGYLHIYESQLCCQLK", "snv": [ { "evidence": [ { "id": "rs748862555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748862555" }, { "id": "rs748862555", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748862555" }, { "id": "rs748862555", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748862555" } ], "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": "2", "chr_pos": "203955937", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K120", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q9Y6W8-1.110.110", "categories": [ "glycosylation_flag", "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": "Q9Y6W8-1.14.14", "start_pos": 14, "end_pos": 14, "uniprot_canonical_ac": "Q9Y6W8-1", "length": 199, "uniprot_id": "ICOS_HUMAN", "protein_name": "Inducible T-cell costimulator", "refseq_ac": "NP_036224", "refseq_name": "inducible T-cell costimulator precursor", "gene_name": "ICOS", "gene_names_uniprotkb": "ICOS; AILIM", "gene_names_refseq": "AILIM; CD278; CVID1; ICOS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y6W8", "url": "https://www.uniprot.org/uniprotkb/Q9Y6W8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y6W8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y6W8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "MKSGLWYFFLFCL", "down_seq": "IKVLTGEINGSANYEMFIFH", "snv": [ { "evidence": [ { "id": "Q9Y6W8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y6W8" } ], "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": "2", "chr_pos": "203936855", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R14", "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: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" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y6W8-1.189.189", "start_pos": 189, "end_pos": 189, "uniprot_canonical_ac": "Q9Y6W8-1", "length": 199, "uniprot_id": "ICOS_HUMAN", "protein_name": "Inducible T-cell costimulator", "refseq_ac": "NP_036224", "refseq_name": "inducible T-cell costimulator precursor", "gene_name": "ICOS", "gene_names_uniprotkb": "ICOS; AILIM", "gene_names_refseq": "AILIM; CD278; CVID1; ICOS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y6W8", "url": "https://www.uniprot.org/uniprotkb/Q9Y6W8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y6W8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y6W8", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1408691464", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1408691464", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1408691464", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1408691464", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "YSSSVHDPNGEYMFMRAVNT", "down_seq": "KKSRLTDVTL", "snv": [ { "evidence": [ { "id": "Q9Y6W8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y6W8" }, { "id": "rs1408691464", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1408691464" }, { "id": "rs1408691464", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1408691464" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NTA->NTT).", "chr_id": "2", "chr_pos": "203957862", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A189", "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": "110", "end_pos": "110" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q9Y6W8-1.196.196", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y6W8-1.196.196", "start_pos": 196, "end_pos": 196, "uniprot_canonical_ac": "Q9Y6W8-1", "length": 199, "uniprot_id": "ICOS_HUMAN", "protein_name": "Inducible T-cell costimulator", "refseq_ac": "NP_036224", "refseq_name": "inducible T-cell costimulator precursor", "gene_name": "ICOS", "gene_names_uniprotkb": "ICOS; AILIM", "gene_names_refseq": "AILIM; CD278; CVID1; ICOS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y6W8", "url": "https://www.uniprot.org/uniprotkb/Q9Y6W8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1690104597", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1690104597", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1690104597", "url": "https://www.ensembl.org/id/rs1690104597", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "PNGEYMFMRAVNTAKKSRLT", "down_seq": "VTL", "snv": [ { "evidence": [ { "id": "rs1690104597", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1690104597" }, { "id": "rs1690104597", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1690104597" } ], "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": "2", "chr_pos": "203957883", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D196", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9Y6W8-1.189.189", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y6W8-1.37.37", "start_pos": 37, "end_pos": 37, "uniprot_canonical_ac": "Q9Y6W8-1", "length": 199, "uniprot_id": "ICOS_HUMAN", "protein_name": "Inducible T-cell costimulator", "refseq_ac": "NP_036224", "refseq_name": "inducible T-cell costimulator precursor", "gene_name": "ICOS", "gene_names_uniprotkb": "ICOS; AILIM", "gene_names_refseq": "AILIM; CD278; CVID1; ICOS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y6W8", "url": "https://www.uniprot.org/uniprotkb/Q9Y6W8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs539709751", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs539709751", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs539709751", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs539709751", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs539709751", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs539709751", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs539709751", "url": "http://gnomad.broadinstitute.org/awesome?query=rs539709751", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "VLTGEINGSANYEMFIFHNG", "down_seq": "VQILCKYPDIVQQFKMQLLK", "snv": [ { "evidence": [ { "id": "rs539709751", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs539709751" }, { "id": "rs539709751", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs539709751" }, { "id": "rs539709751", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs539709751" }, { "id": "rs539709751", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs539709751" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGG->NGS).", "chr_id": "2", "chr_pos": "203955686", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G37", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y6W8-1.64.64", "start_pos": 64, "end_pos": 64, "uniprot_canonical_ac": "Q9Y6W8-1", "length": 199, "uniprot_id": "ICOS_HUMAN", "protein_name": "Inducible T-cell costimulator", "refseq_ac": "NP_036224", "refseq_name": "inducible T-cell costimulator precursor", "gene_name": "ICOS", "gene_names_uniprotkb": "ICOS; AILIM", "gene_names_refseq": "AILIM; CD278; CVID1; ICOS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y6W8", "url": "https://www.uniprot.org/uniprotkb/Q9Y6W8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y6W8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y6W8", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1215466849", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1215466849", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1215466849", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1215466849", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1215466849", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1215466849", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "YPDIVQQFKMQLLKGGQILC", "down_seq": "LTKTKGSGNTVSIKSLKFCH", "snv": [ { "evidence": [ { "id": "Q9Y6W8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y6W8" }, { "id": "rs1215466849", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1215466849" }, { "id": "rs1215466849", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1215466849" }, { "id": "rs1215466849", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1215466849" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DLT->NLT).", "chr_id": "2", "chr_pos": "203955767", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D64", "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:12177", "recommended_name": { "id": "DOID:12177", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12177", "name": "common variable immunodeficiency", "description": "An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that results in insufficient production of antibodies needed to respond to exposure of pathogens." }, "synonyms": [ { "id": "DOID:12177", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12177", "name": "CVID", "description": "" }, { "id": "DOID:12177", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12177", "name": "acquired agammaglobulinemia", "description": "" }, { "id": "DOID:12177", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12177", "name": "acquired hypogammaglobulinemia", "description": "" }, { "id": "DOID:12177", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12177", "name": "common variable agammaglobulinemia", "description": "" }, { "id": "DOID:12177", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12177", "name": "sporadic hypogammaglobulinemia", "description": "" }, { "id": "MONDO:0011864", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011864", "name": "immunodeficiency, common variable, 1", "description": "" }, { "id": "MONDO:0011864", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011864", "name": "immunodeficiency, common variable, 1", "description": "" }, { "id": "MONDO:0011864", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011864", "name": "immunodeficiency, common variable, type 1", "description": "" }, { "id": "MONDO:0011864", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011864", "name": "CVID1", "description": "" }, { "id": "MIM:607594", "resource": "MIM", "url": "https://www.omim.org/entry/607594", "name": "Immunodeficiency, common variable, 1", "description": "Immunodeficiency, common variable, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "12177", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12177" } ] }, { "disease_id": "DOID:0081144", "recommended_name": { "id": "DOID:0081144", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081144", "name": "common variable immunodeficiency 1", "description": "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the ICOS gene on chromosome 2q33." }, "synonyms": [ { "id": "MONDO:0011864", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011864", "name": "immunodeficiency, common variable, 1", "description": "" }, { "id": "MONDO:0011864", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011864", "name": "immunodeficiency, common variable, 1", "description": "" }, { "id": "MONDO:0011864", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011864", "name": "immunodeficiency, common variable, type 1", "description": "" }, { "id": "MONDO:0011864", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011864", "name": "CVID1", "description": "" }, { "id": "MIM:607594", "resource": "MIM", "url": "https://www.omim.org/entry/607594", "name": "Immunodeficiency, common variable, 1", "description": "Immunodeficiency, common variable, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "607594", "database": "MIM", "url": "https://www.omim.org/entry/607594" }, { "id": "0081144", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081144" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y6W8-1.91.91", "start_pos": 91, "end_pos": 91, "uniprot_canonical_ac": "Q9Y6W8-1", "length": 199, "uniprot_id": "ICOS_HUMAN", "protein_name": "Inducible T-cell costimulator", "refseq_ac": "NP_036224", "refseq_name": "inducible T-cell costimulator precursor", "gene_name": "ICOS", "gene_names_uniprotkb": "ICOS; AILIM", "gene_names_refseq": "AILIM; CD278; CVID1; ICOS", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y6W8", "url": "https://www.uniprot.org/uniprotkb/Q9Y6W8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1314279149", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1314279149", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1314279149", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1314279149#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1314279149", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1314279149", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SGNTVSIKSLKFCHSQLSNN", "down_seq": "VSFFLYNLDHSHANYYFCNL", "snv": [ { "evidence": [ { "id": "rs1314279149", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1314279149" }, { "id": "rs1314279149", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1314279149#frequency_tab" }, { "id": "rs1314279149", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1314279149" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NNS->NNG).", "chr_id": "2", "chr_pos": "203955848", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S91", "disease": [ { "disease_id": "DOID:12177", "recommended_name": { "id": "DOID:12177", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12177", "name": "common variable immunodeficiency", "description": "An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that results in insufficient production of antibodies needed to respond to exposure of pathogens." }, "synonyms": [ { "id": "DOID:12177", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12177", "name": "CVID", "description": "" }, { "id": "DOID:12177", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12177", "name": "acquired agammaglobulinemia", "description": "" }, { "id": "DOID:12177", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12177", "name": "acquired hypogammaglobulinemia", "description": "" }, { "id": "DOID:12177", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12177", "name": "common variable agammaglobulinemia", "description": "" }, { "id": "DOID:12177", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12177", "name": "sporadic hypogammaglobulinemia", "description": "" }, { "id": "MONDO:0011864", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011864", "name": "immunodeficiency, common variable, 1", "description": "" }, { "id": "MONDO:0011864", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011864", "name": "immunodeficiency, common variable, 1", "description": "" }, { "id": "MONDO:0011864", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011864", "name": "immunodeficiency, common variable, type 1", "description": "" }, { "id": "MONDO:0011864", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011864", "name": "CVID1", "description": "" }, { "id": "MIM:607594", "resource": "MIM", "url": "https://www.omim.org/entry/607594", "name": "Immunodeficiency, common variable, 1", "description": "Immunodeficiency, common variable, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "12177", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12177" } ] }, { "disease_id": "DOID:0081144", "recommended_name": { "id": "DOID:0081144", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081144", "name": "common variable immunodeficiency 1", "description": "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the ICOS gene on chromosome 2q33." }, "synonyms": [ { "id": "MONDO:0011864", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011864", "name": "immunodeficiency, common variable, 1", "description": "" }, { "id": "MONDO:0011864", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011864", "name": "immunodeficiency, common variable, 1", "description": "" }, { "id": "MONDO:0011864", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011864", "name": "immunodeficiency, common variable, type 1", "description": "" }, { "id": "MONDO:0011864", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011864", "name": "CVID1", "description": "" }, { "id": "MIM:607594", "resource": "MIM", "url": "https://www.omim.org/entry/607594", "name": "Immunodeficiency, common variable, 1", "description": "Immunodeficiency, common variable, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "607594", "database": "MIM", "url": "https://www.omim.org/entry/607594" }, { "id": "0081144", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081144" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "110", "end_pos": "110" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9Y6W8-1.89.89", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y6W8-1.110.110", "categories": [ "glycosylation_flag", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZNG9-1.158.158", "start_pos": 158, "end_pos": 158, "uniprot_canonical_ac": "Q6ZNG9-1", "length": 492, "uniprot_id": "KRBD2_HUMAN", "protein_name": "KRAB domain-containing protein 2", "refseq_ac": "NP_001291876", "refseq_name": "KRAB domain-containing protein 2 isoform b", "gene_name": "KRABD2", "gene_names_uniprotkb": "KRABD2; KRBA2", "gene_names_refseq": "KRABD2; KRBA2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZNG9", "url": "https://www.uniprot.org/uniprotkb/Q6ZNG9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZNG9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ZNG9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "TIKEVKEAKEKGKKSSRDYR", "down_seq": "AAKYDVISVQGTEKLIEATH", "snv": [ { "evidence": [ { "id": "Q6ZNG9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ZNG9" } ], "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": "17", "chr_pos": "8370141", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R158", "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": "158", "end_pos": "158" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "211", "end_pos": "211" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "483", "end_pos": "483" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZNG9-1.183.183", "start_pos": 183, "end_pos": 183, "uniprot_canonical_ac": "Q6ZNG9-1", "length": 492, "uniprot_id": "KRBD2_HUMAN", "protein_name": "KRAB domain-containing protein 2", "refseq_ac": "NP_001291876", "refseq_name": "KRAB domain-containing protein 2 isoform b", "gene_name": "KRABD2", "gene_names_uniprotkb": "KRABD2; KRBA2", "gene_names_refseq": "KRABD2; KRBA2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZNG9", "url": "https://www.uniprot.org/uniprotkb/Q6ZNG9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZNG9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ZNG9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "DVISVQGTEKLIEATHGERD", "down_seq": "IRYYVHKEELFDILHDTHLS", "snv": [ { "evidence": [ { "id": "Q6ZNG9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ZNG9" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "8370066", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R183", "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:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "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": "158", "end_pos": "158" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "211", "end_pos": "211" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "483", "end_pos": "483" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q6ZNG9-1.185.185", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZNG9-1.185.185", "start_pos": 185, "end_pos": 185, "uniprot_canonical_ac": "Q6ZNG9-1", "length": 492, "uniprot_id": "KRBD2_HUMAN", "protein_name": "KRAB domain-containing protein 2", "refseq_ac": "NP_001291876", "refseq_name": "KRAB domain-containing protein 2 isoform b", "gene_name": "KRABD2", "gene_names_uniprotkb": "KRABD2; KRBA2", "gene_names_refseq": "KRABD2; KRBA2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZNG9", "url": "https://www.uniprot.org/uniprotkb/Q6ZNG9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZNG9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ZNG9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ISVQGTEKLIEATHGERDRI", "down_seq": "YYVHKEELFDILHDTHLSIG", "snv": [ { "evidence": [ { "id": "Q6ZNG9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ZNG9" } ], "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": "17", "chr_pos": "8370060", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R185", "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:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "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": "158", "end_pos": "158" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "211", "end_pos": "211" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "483", "end_pos": "483" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q6ZNG9-1.183.183", "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": "Q6ZNG9-1.211.211", "start_pos": 211, "end_pos": 211, "uniprot_canonical_ac": "Q6ZNG9-1", "length": 492, "uniprot_id": "KRBD2_HUMAN", "protein_name": "KRAB domain-containing protein 2", "refseq_ac": "NP_001291876", "refseq_name": "KRAB domain-containing protein 2 isoform b", "gene_name": "KRABD2", "gene_names_uniprotkb": "KRABD2; KRBA2", "gene_names_refseq": "KRABD2; KRBA2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZNG9", "url": "https://www.uniprot.org/uniprotkb/Q6ZNG9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZNG9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ZNG9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "EELFDILHDTHLSIGHGGRT", "down_seq": "MLKELQGKYGNVTKEVIVLY", "snv": [ { "evidence": [ { "id": "Q6ZNG9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ZNG9" } ], "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": "17", "chr_pos": "8369981", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R211", "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": "158", "end_pos": "158" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "211", "end_pos": "211" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "483", "end_pos": "483" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZNG9-1.115.115", "start_pos": 115, "end_pos": 115, "uniprot_canonical_ac": "Q6ZNG9-1", "length": 492, "uniprot_id": "KRBD2_HUMAN", "protein_name": "KRAB domain-containing protein 2", "refseq_ac": "NP_001291876", "refseq_name": "KRAB domain-containing protein 2 isoform b", "gene_name": "KRABD2", "gene_names_uniprotkb": "KRABD2; KRBA2", "gene_names_refseq": "KRABD2; KRBA2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZNG9", "url": "https://www.uniprot.org/uniprotkb/Q6ZNG9" } ], "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": "Q6ZNG9", "url": "https://www.uniprot.org/uniprotkb/Q6ZNG9" }, { "database": "iPTMnet", "id": "Q6ZNG9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZNG9" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q6ZNG9", "url": "https://www.uniprot.org/uniprotkb/Q6ZNG9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6ZNG9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZNG9", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VSNASEMEMEISNMREKFLM", "down_seq": "VTKLVESKSYNSKVFSKEKY", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q6ZNG9", "url": "https://www.uniprot.org/uniprotkb/Q6ZNG9" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q6ZNG9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZNG9" } ], "site_lbl": "Ser115" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "158", "end_pos": "158" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "211", "end_pos": "211" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "483", "end_pos": "483" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q6ZNG9-1.117.117", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q6ZNG9-1.125.125", "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": "Q6ZNG9-1.117.117", "start_pos": 117, "end_pos": 117, "uniprot_canonical_ac": "Q6ZNG9-1", "length": 492, "uniprot_id": "KRBD2_HUMAN", "protein_name": "KRAB domain-containing protein 2", "refseq_ac": "NP_001291876", "refseq_name": "KRAB domain-containing protein 2 isoform b", "gene_name": "KRABD2", "gene_names_uniprotkb": "KRABD2; KRBA2", "gene_names_refseq": "KRABD2; KRBA2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZNG9", "url": "https://www.uniprot.org/uniprotkb/Q6ZNG9" } ], "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": "Q6ZNG9", "url": "https://www.uniprot.org/uniprotkb/Q6ZNG9" }, { "database": "iPTMnet", "id": "Q6ZNG9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZNG9" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q6ZNG9", "url": "https://www.uniprot.org/uniprotkb/Q6ZNG9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6ZNG9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZNG9", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "NASEMEMEISNMREKFLMSV", "down_seq": "KLVESKSYNSKVFSKEKYFQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q6ZNG9", "url": "https://www.uniprot.org/uniprotkb/Q6ZNG9" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q6ZNG9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZNG9" } ], "site_lbl": "Thr117" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "158", "end_pos": "158" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "211", "end_pos": "211" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "483", "end_pos": "483" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q6ZNG9-1.115.115", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q6ZNG9-1.125.125", "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": "Q6ZNG9-1.125.125", "start_pos": 125, "end_pos": 125, "uniprot_canonical_ac": "Q6ZNG9-1", "length": 492, "uniprot_id": "KRBD2_HUMAN", "protein_name": "KRAB domain-containing protein 2", "refseq_ac": "NP_001291876", "refseq_name": "KRAB domain-containing protein 2 isoform b", "gene_name": "KRABD2", "gene_names_uniprotkb": "KRABD2; KRBA2", "gene_names_refseq": "KRABD2; KRBA2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZNG9", "url": "https://www.uniprot.org/uniprotkb/Q6ZNG9" } ], "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": "Q6ZNG9", "url": "https://www.uniprot.org/uniprotkb/Q6ZNG9" }, { "database": "iPTMnet", "id": "Q6ZNG9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZNG9" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q6ZNG9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZNG9", "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": "ISNMREKFLMSVTKLVESKS", "down_seq": "NSKVFSKEKYFQTIKEVKEA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q6ZNG9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZNG9" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Tyr125" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "158", "end_pos": "158" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "211", "end_pos": "211" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "483", "end_pos": "483" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q6ZNG9-1.115.115", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q6ZNG9-1.117.117", "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": "Q6ZNG9-1.483.483", "start_pos": 483, "end_pos": 483, "uniprot_canonical_ac": "Q6ZNG9-1", "length": 492, "uniprot_id": "KRBD2_HUMAN", "protein_name": "KRAB domain-containing protein 2", "refseq_ac": "NP_001291876", "refseq_name": "KRAB domain-containing protein 2 isoform b", "gene_name": "KRABD2", "gene_names_uniprotkb": "KRABD2; KRBA2", "gene_names_refseq": "KRABD2; KRBA2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZNG9", "url": "https://www.uniprot.org/uniprotkb/Q6ZNG9" } ], "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": "iPTMnet", "id": "Q6ZNG9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZNG9" } ], "reference": [ { "type": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ] } ], "crossref": [ { "id": "Q6ZNG9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZNG9", "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": "DRSDMDDDMDPTPEASEPST", "down_seq": "QGTSGLLCW", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q6ZNG9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZNG9" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ], "site_lbl": "Ser483" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "158", "end_pos": "158" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "211", "end_pos": "211" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "483", "end_pos": "483" } ] } ], "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": "B7U540-1.156.156", "start_pos": 156, "end_pos": 156, "uniprot_canonical_ac": "B7U540-1", "length": 433, "uniprot_id": "KCJ18_HUMAN", "protein_name": "Inward rectifier potassium channel 18", "refseq_ac": "NP_001181887", "refseq_name": "inward rectifier potassium channel 18", "gene_name": "KCNJ18", "gene_names_uniprotkb": "KCNJ18", "gene_names_refseq": "KCNJ18; KIR2.6; TTPP2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "B7U540", "url": "https://www.uniprot.org/uniprotkb/B7U540" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Kir2.6 regulates the surface expression of Kir2.x inward rectifier potassium channels.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Dassau L, Conti LR, Radeke CM, Ptacek LJ, Vandenberg CA", "evidence": [ { "database": "UniProtKB", "id": "B7U540", "url": "https://www.uniprot.org/uniprotkb/B7U540" }, { "database": "RefSeq", "id": "NP_001181887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001181887" } ], "reference": [ { "type": "PubMed", "id": "21209095", "url": "https://glygen.org/publication/PubMed/21209095" } ] } ], "crossref": [ { "id": "B7U540", "url": "https://www.uniprot.org/uniprotkb/B7U540", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21209095", "url": "https://glygen.org/publication/PubMed/21209095", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "FSIETQTTIGYGLRCVTEEC", "down_seq": "VAVFMVVAQSIVGCIIDSFM", "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Increased expression at the cell membrane.", "evidence": [ { "database": "UniProtKB", "id": "B7U540", "url": "https://www.uniprot.org/uniprotkb/B7U540" }, { "database": "PubMed", "id": "21209095", "url": "https://glygen.org/publication/PubMed/21209095" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "354", "end_pos": "354" } ] } ], "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": "B7U540-1.354.354", "start_pos": 354, "end_pos": 354, "uniprot_canonical_ac": "B7U540-1", "length": 433, "uniprot_id": "KCJ18_HUMAN", "protein_name": "Inward rectifier potassium channel 18", "refseq_ac": "NP_001181887", "refseq_name": "inward rectifier potassium channel 18", "gene_name": "KCNJ18", "gene_names_uniprotkb": "KCNJ18", "gene_names_refseq": "KCNJ18; KIR2.6; TTPP2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "B7U540", "url": "https://www.uniprot.org/uniprotkb/B7U540" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis.", "journal": "Cell", "date": "2010", "authors": "Ryan DP, da Silva MR, Soong TW, Fontaine B, Donaldson MR, Kung AW, Jongjaroenprasert W, Liang MC, Khoo DH, Cheah JS, Ho SC, Bernstein HS, Maciel RM, Brown RH Jr, Ptacek LJ", "evidence": [ { "database": "UniProtKB", "id": "B7U540", "url": "https://www.uniprot.org/uniprotkb/B7U540" }, { "database": "RefSeq", "id": "NP_001181887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001181887" } ], "reference": [ { "type": "PubMed", "id": "20074522", "url": "https://glygen.org/publication/PubMed/20074522" } ] } ], "crossref": [ { "id": "B7U540", "url": "https://www.uniprot.org/uniprotkb/B7U540", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20074522", "url": "https://glygen.org/publication/PubMed/20074522", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "EKNQYKIDYSHFHKTYEVPS", "down_seq": "PRCSAKDLVENKFLLPSANS", "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "E", "comment": "Decreases the single-channel open probability (Po) without altering its conductance.", "evidence": [ { "database": "UniProtKB", "id": "B7U540", "url": "https://www.uniprot.org/uniprotkb/B7U540" }, { "database": "PubMed", "id": "20074522", "url": "https://glygen.org/publication/PubMed/20074522" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "354", "end_pos": "354" } ] } ], "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": "Q6JEL2-1.23.23", "start_pos": 23, "end_pos": 23, "uniprot_canonical_ac": "Q6JEL2-1", "length": 608, "uniprot_id": "KLH10_HUMAN", "protein_name": "Kelch-like protein 10", "refseq_ac": "NP_001316524", "refseq_name": "kelch-like protein 10 isoform 1", "gene_name": "KLHL10", "gene_names_uniprotkb": "KLHL10", "gene_names_refseq": "KLHL10; SPGF11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6JEL2", "url": "https://www.uniprot.org/uniprotkb/Q6JEL2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6JEL2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6JEL2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "MESAAASTRFHQPHMERKMS", "down_seq": "MACEIFNELRLEGKLCDVVI", "snv": [ { "evidence": [ { "id": "Q6JEL2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6JEL2" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "41838000", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A23", "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:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/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": "23", "end_pos": "23" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "572", "end_pos": "572" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "501", "end_pos": "501" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6JEL2-1.399.399", "start_pos": 399, "end_pos": 399, "uniprot_canonical_ac": "Q6JEL2-1", "length": 608, "uniprot_id": "KLH10_HUMAN", "protein_name": "Kelch-like protein 10", "refseq_ac": "NP_001316524", "refseq_name": "kelch-like protein 10 isoform 1", "gene_name": "KLHL10", "gene_names_uniprotkb": "KLHL10", "gene_names_refseq": "KLHL10; SPGF11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6JEL2", "url": "https://www.uniprot.org/uniprotkb/Q6JEL2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6JEL2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6JEL2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VSVTVLGNFIYAMGGFDGYV", "down_seq": "LNTAERYEPETNQWTLIAPM", "snv": [ { "evidence": [ { "id": "Q6JEL2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6JEL2" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "41845637", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R399", "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:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "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": "23", "end_pos": "23" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "572", "end_pos": "572" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "501", "end_pos": "501" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "upstream", "id": "Q6JEL2-1.417.417", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6JEL2-1.417.417", "start_pos": 417, "end_pos": 417, "uniprot_canonical_ac": "Q6JEL2-1", "length": 608, "uniprot_id": "KLH10_HUMAN", "protein_name": "Kelch-like protein 10", "refseq_ac": "NP_001316524", "refseq_name": "kelch-like protein 10 isoform 1", "gene_name": "KLHL10", "gene_names_uniprotkb": "KLHL10", "gene_names_refseq": "KLHL10; SPGF11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6JEL2", "url": "https://www.uniprot.org/uniprotkb/Q6JEL2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6JEL2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6JEL2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "YVRLNTAERYEPETNQWTLI", "down_seq": "PMHEQRSDASATTLYGKVYI", "snv": [ { "evidence": [ { "id": "Q6JEL2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6JEL2" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "41845690", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A417", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "23", "end_pos": "23" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "572", "end_pos": "572" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "501", "end_pos": "501" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q6JEL2-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q6JEL2-1.421.421", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q6JEL2-1.428.428", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6JEL2-1.421.421", "start_pos": 421, "end_pos": 421, "uniprot_canonical_ac": "Q6JEL2-1", "length": 608, "uniprot_id": "KLH10_HUMAN", "protein_name": "Kelch-like protein 10", "refseq_ac": "NP_001316524", "refseq_name": "kelch-like protein 10 isoform 1", "gene_name": "KLHL10", "gene_names_uniprotkb": "KLHL10", "gene_names_refseq": "KLHL10; SPGF11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6JEL2", "url": "https://www.uniprot.org/uniprotkb/Q6JEL2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6JEL2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6JEL2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "NTAERYEPETNQWTLIAPMH", "down_seq": "QRSDASATTLYGKVYICGGF", "snv": [ { "evidence": [ { "id": "Q6JEL2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6JEL2" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "41845702", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E421", "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": "23", "end_pos": "23" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "572", "end_pos": "572" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "501", "end_pos": "501" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q6JEL2-1.417.417", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q6JEL2-1.428.428", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6JEL2-1.428.428", "start_pos": 428, "end_pos": 428, "uniprot_canonical_ac": "Q6JEL2-1", "length": 608, "uniprot_id": "KLH10_HUMAN", "protein_name": "Kelch-like protein 10", "refseq_ac": "NP_001316524", "refseq_name": "kelch-like protein 10 isoform 1", "gene_name": "KLHL10", "gene_names_uniprotkb": "KLHL10", "gene_names_refseq": "KLHL10; SPGF11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6JEL2", "url": "https://www.uniprot.org/uniprotkb/Q6JEL2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6JEL2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6JEL2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "PETNQWTLIAPMHEQRSDAS", "down_seq": "TTLYGKVYICGGFNGNECLF", "snv": [ { "evidence": [ { "id": "Q6JEL2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6JEL2" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "17", "chr_pos": "41845723", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A428", "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" } ] }, { "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": "23", "end_pos": "23" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "572", "end_pos": "572" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "501", "end_pos": "501" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q6JEL2-1.417.417", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q6JEL2-1.421.421", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6JEL2-1.508.508", "start_pos": 508, "end_pos": 508, "uniprot_canonical_ac": "Q6JEL2-1", "length": 608, "uniprot_id": "KLH10_HUMAN", "protein_name": "Kelch-like protein 10", "refseq_ac": "NP_001316524", "refseq_name": "kelch-like protein 10 isoform 1", "gene_name": "KLHL10", "gene_names_uniprotkb": "KLHL10", "gene_names_refseq": "KLHL10; SPGF11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6JEL2", "url": "https://www.uniprot.org/uniprotkb/Q6JEL2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6JEL2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6JEL2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FDGANRLRSAEAYSPVANTW", "down_seq": "TIPTMFNPRSNFGIEVVDDL", "snv": [ { "evidence": [ { "id": "Q6JEL2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6JEL2" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "17", "chr_pos": "41848002", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R508", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "23", "end_pos": "23" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "572", "end_pos": "572" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "501", "end_pos": "501" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q6JEL2-1.501.501", "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": "Q6JEL2-1.572.572", "start_pos": 572, "end_pos": 572, "uniprot_canonical_ac": "Q6JEL2-1", "length": 608, "uniprot_id": "KLH10_HUMAN", "protein_name": "Kelch-like protein 10", "refseq_ac": "NP_001316524", "refseq_name": "kelch-like protein 10 isoform 1", "gene_name": "KLHL10", "gene_names_uniprotkb": "KLHL10", "gene_names_refseq": "KLHL10; SPGF11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6JEL2", "url": "https://www.uniprot.org/uniprotkb/Q6JEL2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6JEL2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6JEL2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "DEWYDAHDMSIYRSALSCCV", "down_seq": "PGLANVEEYAARRDNFPGLA", "snv": [ { "evidence": [ { "id": "Q6JEL2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6JEL2" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "V", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "17", "chr_pos": "41848195", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V572", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "23", "end_pos": "23" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "572", "end_pos": "572" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "501", "end_pos": "501" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_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": "Q6JEL2-1.501.501", "start_pos": 501, "end_pos": 501, "uniprot_canonical_ac": "Q6JEL2-1", "length": 608, "uniprot_id": "KLH10_HUMAN", "protein_name": "Kelch-like protein 10", "refseq_ac": "NP_001316524", "refseq_name": "kelch-like protein 10 isoform 1", "gene_name": "KLHL10", "gene_names_uniprotkb": "KLHL10", "gene_names_refseq": "KLHL10; SPGF11", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6JEL2", "url": "https://www.uniprot.org/uniprotkb/Q6JEL2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6JEL2", "url": "https://www.uniprot.org/uniprotkb/Q6JEL2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "HVYAVGGFDGANRLRSAEAY", "down_seq": "PVANTWRTIPTMFNPRSNFG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q6JEL2", "url": "https://www.uniprot.org/uniprotkb/Q6JEL2" } ], "site_lbl": "Ser501" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "23", "end_pos": "23" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "572", "end_pos": "572" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "501", "end_pos": "501" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q6JEL2-1.508.508", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13797-1.225.225", "start_pos": 225, "end_pos": 225, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Integrated glycoproteomic characterization of clear cell renal cell carcinoma.", "journal": "Cell reports", "date": "2023-05-30", "authors": "Lih T Mamie, Cho Kyung-Cho, Schnaubelt Michael, Hu Yingwei, Zhang Hui", "evidence": [ { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "reference": [ { "type": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" } ] }, { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] }, { "title": "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.", "journal": "Journal of proteome research", "date": "2009", "authors": "Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797#ptm_processing" }, { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "reference": [ { "type": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" } ] } ], "crossref": [ { "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911", "database": "PubMed", "categories": [ "Other" ] }, { "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471", "database": "PDC", "categories": [ "Other" ] }, { "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529", "database": "DOI", "categories": [ "Other" ] }, { "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888", "database": "Data Submission", "categories": [ "Other" ] }, { "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs1240240598", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1240240598", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1240240598", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1240240598", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1419961503", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1419961503", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1419961503", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1419961503", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q13797", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "ELVVMGAPGSFYWAGTIKVL", "down_seq": "LTDNTYLKLNDEVIMNRRYT", "glycosylation": [ { "glytoucan_ac": "G27947YN", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VLnLTDNTYLK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn225", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G40926MX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VLnLTDNTYLK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn225", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G79666IR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VLnLTDNTYLK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn225", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VLNLTDNTYLK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn225", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn225", "evidence": [ { "id": "Q13797", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q13797#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" } ] } ], "snv": [ { "evidence": [ { "id": "rs1240240598", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1240240598" }, { "id": "rs1240240598", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1240240598" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLT->ILT).", "chr_id": "3", "chr_pos": "37503239", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N225", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1419961503", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1419961503" }, { "id": "rs1419961503", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1419961503" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLT->KLT).", "chr_id": "3", "chr_pos": "37503240", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N225", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q13797", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NLT->TLT).", "chr_id": "3", "chr_pos": "37503239", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N225", "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": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q13797-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q13797-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q13797-1.237.237", "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": 5 }, { "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": 4 }, { "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": 4 } ], "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": 4 }, { "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": 4 }, { "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": 4 } ], "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": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q13797-1.252.252", "start_pos": 252, "end_pos": 252, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "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": "LKLNDEVIMNRRYTYLGYAV", "down_seq": "AGHFSHPSTIDVVGGAPQDK", "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": "Thr252", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q13797-1.237.237", "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": "Q13797-1.476.476", "start_pos": 476, "end_pos": 476, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs917910396", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs917910396", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs917910396", "url": "https://www.ncbi.nlm.nih.gov/snp/rs917910396#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LLRARPVITVDVSIFLPGSI", "down_seq": "ITAPQCHDGQQPVNCLNVTT", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn476", "evidence": [ { "id": "Q13797", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q13797#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs917910396", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs917910396" }, { "id": "rs917910396", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs917910396#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NIT->SIT).", "chr_id": "3", "chr_pos": "37533367", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N476", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q13797-1.464.464", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q13797-1.466.466", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q13797-1.493.493", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13797-1.493.493", "start_pos": 493, "end_pos": 493, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "GSINITAPQCHDGQQPVNCL", "down_seq": "VTTCFSFHGKHVPGEIGLNY", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn493", "evidence": [ { "id": "Q13797", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q13797#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q13797-1.476.476", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13797-1.612.612", "start_pos": 612, "end_pos": 612, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "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": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "ELPPLTPVLRWKKGQKIAQK", "down_seq": "QTVFERNCRSEDCAADLQLQ", "glycosylation": [ { "glytoucan_ac": "G60033FS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NQTVFER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn612", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn612", "evidence": [ { "id": "Q13797", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q13797#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q13797-1.614.614", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q13797-1.621.621", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q13797-1.654.654", "start_pos": 654, "end_pos": 654, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "KLLLSSMDEKTLYLALGAVK", "down_seq": "ISLNISISNLGDDAYDANVS", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn654", "evidence": [ { "id": "Q13797", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q13797#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q13797-1.656.656", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q13797-1.658.658", "categories": [ "glycosylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q13797-1.660.660", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q13797-1.672.672", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q13797-1.674.674", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13797-1.658.658", "start_pos": 658, "end_pos": 658, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "SSMDEKTLYLALGAVKNISL", "down_seq": "ISISNLGDDAYDANVSFNVS", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn658", "evidence": [ { "id": "Q13797", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q13797#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q13797-1.654.654", "categories": [ "glycosylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q13797-1.656.656", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q13797-1.660.660", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q13797-1.672.672", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q13797-1.674.674", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q13797-1.676.676", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q13797-1.678.678", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13797-1.672.672", "start_pos": 672, "end_pos": 672, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs574855398", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs574855398", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs574855398", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs574855398", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs574855398", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs574855398", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs574855398", "url": "https://www.ncbi.nlm.nih.gov/snp/rs574855398#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs574855398", "url": "http://gnomad.broadinstitute.org/awesome?query=rs574855398", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "VKNISLNISISNLGDDAYDA", "down_seq": "VSFNVSRELFFINMWQKEEM", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn672", "evidence": [ { "id": "Q13797", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q13797#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs574855398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs574855398" }, { "id": "rs574855398", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs574855398" }, { "id": "rs574855398", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs574855398" }, { "id": "rs574855398", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs574855398#frequency_tab" }, { "id": "rs574855398", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs574855398" } ], "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": "3", "chr_pos": "37683963", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "N672", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q13797-1.654.654", "categories": [ "glycosylation_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q13797-1.656.656", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q13797-1.658.658", "categories": [ "glycosylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q13797-1.660.660", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q13797-1.674.674", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q13797-1.676.676", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q13797-1.678.678", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13797-1.676.676", "start_pos": 676, "end_pos": 676, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs139900262", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139900262", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs139900262", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs139900262", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs139900262", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139900262", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs139900262", "url": "https://www.ncbi.nlm.nih.gov/snp/rs139900262#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs139900262", "url": "http://gnomad.broadinstitute.org/awesome?query=rs139900262", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "SLNISISNLGDDAYDANVSF", "down_seq": "VSRELFFINMWQKEEMGISC", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn676", "evidence": [ { "id": "Q13797", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q13797#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs139900262", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139900262" }, { "id": "rs139900262", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs139900262" }, { "id": "rs139900262", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139900262" }, { "id": "rs139900262", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs139900262#frequency_tab" }, { "id": "rs139900262", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs139900262" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVS->IVS).", "chr_id": "3", "chr_pos": "37683975", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "N676", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs139900262", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139900262" }, { "id": "rs139900262", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs139900262" }, { "id": "rs139900262", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139900262" }, { "id": "rs139900262", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs139900262#frequency_tab" }, { "id": "rs139900262", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs139900262" } ], "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": "3", "chr_pos": "37683975", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "N676", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q13797-1.656.656", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q13797-1.658.658", "categories": [ "glycosylation_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q13797-1.660.660", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q13797-1.672.672", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q13797-1.674.674", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q13797-1.678.678", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13797-1.807.807", "start_pos": 807, "end_pos": 807, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q13797", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1243507939", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1243507939", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1243507939", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1243507939", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1322988582", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1322988582", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1322988582", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1322988582#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1322988582", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1322988582", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "SVDAANFIQLDDLECHFQPI", "down_seq": "ITLQVYNTGPSTLPGSSVSI", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn807", "evidence": [ { "id": "Q13797", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q13797#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "Q13797", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797" }, { "id": "rs1243507939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1243507939" }, { "id": "rs1243507939", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1243507939" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "N", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NIT->DIT).", "chr_id": "3", "chr_pos": "37744020", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N807", "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": "rs1322988582", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1322988582" }, { "id": "rs1322988582", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1322988582#frequency_tab" }, { "id": "rs1322988582", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1322988582" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NIT->IIT).", "chr_id": "3", "chr_pos": "37744021", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N807", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1322988582", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1322988582" }, { "id": "rs1322988582", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1322988582#frequency_tab" }, { "id": "rs1322988582", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1322988582" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NIT->SIT).", "chr_id": "3", "chr_pos": "37744021", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N807", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q13797-1.809.809", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q13797-1.854.854", "start_pos": 854, "end_pos": 854, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "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" ] }, { "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs755278317", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755278317", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs755278317", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755278317", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs755278317", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755278317", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs752702491", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752702491", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs752702491", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752702491", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs752702491", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752702491#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs752702491", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752702491", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "SSGGAEMFHVQEMVVGQEKG", "down_seq": "CSFQKNPTPCIIPQEQENIF", "glycosylation": [ { "glytoucan_ac": "G27058EU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GnCSFQK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn854", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G45395BF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GnCSFQK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn854", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GnCSFQK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn854", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn854", "evidence": [ { "id": "Q13797", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q13797#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs755278317", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755278317" }, { "id": "rs755278317", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755278317" }, { "id": "rs755278317", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755278317" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NCS->DCS).", "chr_id": "3", "chr_pos": "37777410", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N854", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752702491", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752702491" }, { "id": "rs752702491", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752702491" }, { "id": "rs752702491", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752702491#frequency_tab" }, { "id": "rs752702491", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752702491" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NCS->TCS).", "chr_id": "3", "chr_pos": "37777411", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N854", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q13797-1.856.856", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q13797-1.861.861", "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": 4 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 3 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 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": 3 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 3 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q13797-1.904.904", "start_pos": 904, "end_pos": 904, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs1191072831", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1191072831", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1191072831", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1191072831", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "SGRKVLDCEKPGISCLTAHC", "down_seq": "FSALAKEESRTIDIYMLLNT", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn904", "evidence": [ { "id": "Q13797", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q13797#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs1191072831", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1191072831" }, { "id": "rs1191072831", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1191072831" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NFS->TFS).", "chr_id": "3", "chr_pos": "37779945", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N904", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q13797-1.906.906", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13797-1.109.109", "start_pos": 109, "end_pos": 109, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13797", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "VHTNPDRRCTELDMARGKNR", "down_seq": "TSCGKTCREDRDDEWMGVSL", "snv": [ { "evidence": [ { "id": "Q13797", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "3", "chr_pos": "37473366", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G109", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q13797-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q13797-1.117.117", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_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": "Q13797-1.117.117", "start_pos": 117, "end_pos": 117, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13797", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "CTELDMARGKNRGTSCGKTC", "down_seq": "EDRDDEWMGVSLARQPKADG", "snv": [ { "evidence": [ { "id": "Q13797", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797" } ], "glycoeffect": [], "subjects_tested": "9251", "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": "37473390", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R117", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q13797-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q13797-1.109.109", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13797-1.150.150", "start_pos": 150, "end_pos": 150, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1698554793", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1698554793", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1698554793", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1698554793#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "ARQPKADGRVLACAHRWKNI", "down_seq": "YEADHILPHGFCYIIPSNLQ", "snv": [ { "evidence": [ { "id": "rs1698554793", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1698554793" }, { "id": "rs1698554793", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1698554793#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NIY->NIC).", "chr_id": "3", "chr_pos": "37481512", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y150", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13797-1.227.227", "start_pos": 227, "end_pos": 227, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs768681581", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768681581", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs768681581", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768681581", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs768681581", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768681581", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs149428936", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149428936", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs149428936", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149428936", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs149428936", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149428936", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs149428936", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149428936#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs149428936", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149428936", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "VVMGAPGSFYWAGTIKVLNL", "down_seq": "DNTYLKLNDEVIMNRRYTYL", "snv": [ { "evidence": [ { "id": "rs768681581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768681581" }, { "id": "rs768681581", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768681581" }, { "id": "rs768681581", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768681581" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLT->NLA).", "chr_id": "3", "chr_pos": "37503244", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T227", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs149428936", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149428936" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLT->NLK).", "chr_id": "3", "chr_pos": "37503245", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T227", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs149428936", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149428936" }, { "id": "rs149428936", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149428936" }, { "id": "rs149428936", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149428936" }, { "id": "rs149428936", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149428936#frequency_tab" }, { "id": "rs149428936", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149428936" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLT->NLM).", "chr_id": "3", "chr_pos": "37503245", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "T227", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs149428936", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149428936" }, { "id": "rs149428936", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149428936" }, { "id": "rs149428936", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149428936" }, { "id": "rs149428936", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149428936#frequency_tab" }, { "id": "rs149428936", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149428936" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLT->NLR).", "chr_id": "3", "chr_pos": "37503245", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "T227", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q13797-1.225.225", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q13797-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q13797-1.237.237", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q13797-1.231.231", "start_pos": 231, "end_pos": 231, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1036342146", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1036342146", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1036342146", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1036342146#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1036342146", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1036342146", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "APGSFYWAGTIKVLNLTDNT", "down_seq": "LKLNDEVIMNRRYTYLGYAV", "snv": [ { "evidence": [ { "id": "rs1036342146", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1036342146" }, { "id": "rs1036342146", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1036342146#frequency_tab" }, { "id": "rs1036342146", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1036342146" } ], "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": "3", "chr_pos": "37503257", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y231", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q13797-1.225.225", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q13797-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q13797-1.237.237", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13797-1.237.237", "start_pos": 237, "end_pos": 237, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13797", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "WAGTIKVLNLTDNTYLKLND", "down_seq": "VIMNRRYTYLGYAVTAGHFS", "snv": [ { "evidence": [ { "id": "Q13797", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "3", "frequency": "0.2", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "37503274", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E237", "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": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q13797-1.225.225", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q13797-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q13797-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q13797-1.252.252", "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": "Q13797-1.424.424", "start_pos": 424, "end_pos": 424, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13797", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GGIVPQYSMKLSGQKINPVL", "down_seq": "MFGQSISGGIDMDGNGYPDV", "snv": [ { "evidence": [ { "id": "Q13797", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "3", "chr_pos": "37523555", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R424", "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" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/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": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13797-1.464.464", "start_pos": 464, "end_pos": 464, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13797", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "VTVGAFMSDSVVLLRARPVI", "down_seq": "VDVSIFLPGSINITAPQCHD", "snv": [ { "evidence": [ { "id": "Q13797", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797" } ], "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": "3", "chr_pos": "37533331", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T464", "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: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": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q13797-1.466.466", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q13797-1.476.476", "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": "Q13797-1.466.466", "start_pos": 466, "end_pos": 466, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13797", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "VGAFMSDSVVLLRARPVITV", "down_seq": "VSIFLPGSINITAPQCHDGQ", "snv": [ { "evidence": [ { "id": "Q13797", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DVS->NVS).", "chr_id": "3", "chr_pos": "37533336", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D466", "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": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q13797-1.464.464", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q13797-1.476.476", "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": "Q13797-1.614.614", "start_pos": 614, "end_pos": 614, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1700450480", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1700450480", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1700450480", "url": "https://www.ensembl.org/id/rs1700450480", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs753631029", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753631029", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs753631029", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753631029", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs753631029", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753631029", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PPLTPVLRWKKGQKIAQKNQ", "down_seq": "VFERNCRSEDCAADLQLQGK", "snv": [ { "evidence": [ { "id": "rs1700450480", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1700450480" }, { "id": "rs1700450480", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1700450480" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NQT->NQA).", "chr_id": "3", "chr_pos": "37653714", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T614", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753631029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753631029" }, { "id": "rs753631029", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753631029" }, { "id": "rs753631029", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753631029" } ], "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 (NQT->NQI).", "chr_id": "3", "chr_pos": "37653715", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T614", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q13797-1.612.612", "categories": [ "glycosylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q13797-1.621.621", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q13797-1.621.621", "start_pos": 621, "end_pos": 621, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13797", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs757894032", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757894032", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs757894032", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757894032", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs757894032", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757894032#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs757894032", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757894032", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RWKKGQKIAQKNQTVFERNC", "down_seq": "SEDCAADLQLQGKLLLSSMD", "snv": [ { "evidence": [ { "id": "Q13797", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797" }, { "id": "rs757894032", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757894032" }, { "id": "rs757894032", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757894032" }, { "id": "rs757894032", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757894032#frequency_tab" }, { "id": "rs757894032", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757894032" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NCR->NCC).", "chr_id": "3", "chr_pos": "37653735", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R621", "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": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q13797-1.612.612", "categories": [ "glycosylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q13797-1.614.614", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13797-1.656.656", "start_pos": 656, "end_pos": 656, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13797", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1426704829", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1426704829", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1426704829", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1426704829#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1426704829", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1426704829", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LLSSMDEKTLYLALGAVKNI", "down_seq": "LNISISNLGDDAYDANVSFN", "snv": [ { "evidence": [ { "id": "Q13797", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797" }, { "id": "rs1426704829", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1426704829" }, { "id": "rs1426704829", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1426704829#frequency_tab" }, { "id": "rs1426704829", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1426704829" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NIS->NIF).", "chr_id": "3", "chr_pos": "37683915", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S656", "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": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q13797-1.654.654", "categories": [ "glycosylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q13797-1.658.658", "categories": [ "glycosylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q13797-1.660.660", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q13797-1.672.672", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q13797-1.674.674", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q13797-1.676.676", "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": "Q13797-1.660.660", "start_pos": 660, "end_pos": 660, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs376677064", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376677064", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs376677064", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376677064", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs376677064", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376677064#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs376677064", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376677064", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MDEKTLYLALGAVKNISLNI", "down_seq": "ISNLGDDAYDANVSFNVSRE", "snv": [ { "evidence": [ { "id": "rs376677064", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376677064" }, { "id": "rs376677064", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376677064" }, { "id": "rs376677064", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376677064#frequency_tab" }, { "id": "rs376677064", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376677064" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NIS->NIF).", "chr_id": "3", "chr_pos": "37683927", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S660", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q13797-1.654.654", "categories": [ "glycosylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q13797-1.656.656", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q13797-1.658.658", "categories": [ "glycosylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q13797-1.672.672", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q13797-1.674.674", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q13797-1.676.676", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q13797-1.678.678", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13797-1.674.674", "start_pos": 674, "end_pos": 674, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13797", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NISLNISISNLGDDAYDANV", "down_seq": "FNVSRELFFINMWQKEEMGI", "snv": [ { "evidence": [ { "id": "Q13797", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797" } ], "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 (NVS->NVF).", "chr_id": "3", "chr_pos": "37683969", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S674", "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": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q13797-1.654.654", "categories": [ "glycosylation_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q13797-1.656.656", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q13797-1.658.658", "categories": [ "glycosylation_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q13797-1.660.660", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q13797-1.672.672", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q13797-1.676.676", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q13797-1.678.678", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13797-1.678.678", "start_pos": 678, "end_pos": 678, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13797", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2364652", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2364652", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2364652", "url": "https://www.ensembl.org/id/rs2364652", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NISISNLGDDAYDANVSFNV", "down_seq": "RELFFINMWQKEEMGISCEL", "snv": [ { "evidence": [ { "id": "Q13797", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NVS->NVF).", "chr_id": "3", "chr_pos": "37683981", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S678", "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": "rs2364652", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2364652" }, { "id": "rs2364652", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2364652" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVS->NVP).", "chr_id": "3", "chr_pos": "37683980", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S678", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q13797-1.658.658", "categories": [ "glycosylation_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q13797-1.660.660", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q13797-1.672.672", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q13797-1.674.674", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q13797-1.676.676", "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": "Q13797-1.809.809", "start_pos": 809, "end_pos": 809, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs768594735", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768594735", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs768594735", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768594735", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs768594735", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768594735", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1575217185", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1575217185", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1575217185", "url": "https://www.ensembl.org/id/rs1575217185", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "DAANFIQLDDLECHFQPINI", "down_seq": "LQVYNTGPSTLPGSSVSISF", "snv": [ { "evidence": [ { "id": "rs768594735", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768594735" }, { "id": "rs768594735", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768594735" }, { "id": "rs768594735", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768594735" } ], "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 (NIT->NII).", "chr_id": "3", "chr_pos": "37744027", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T809", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1575217185", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1575217185" }, { "id": "rs1575217185", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1575217185" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NIT->NIP).", "chr_id": "3", "chr_pos": "37744026", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T809", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q13797-1.807.807", "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": "Q13797-1.856.856", "start_pos": 856, "end_pos": 856, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs755942430", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755942430", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs755942430", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755942430", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs755942430", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755942430", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GGAEMFHVQEMVVGQEKGNC", "down_seq": "FQKNPTPCIIPQEQENIFHT", "snv": [ { "evidence": [ { "id": "rs755942430", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755942430" }, { "id": "rs755942430", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755942430" }, { "id": "rs755942430", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755942430" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NCS->NCF).", "chr_id": "3", "chr_pos": "37777417", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S856", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q13797-1.854.854", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q13797-1.861.861", "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": "Q13797-1.861.861", "start_pos": 861, "end_pos": 861, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1181751894", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1181751894", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1181751894", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1181751894#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1181751894", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1181751894", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q13797", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "FHVQEMVVGQEKGNCSFQKN", "down_seq": "TPCIIPQEQENIFHTIFAFF", "snv": [ { "evidence": [ { "id": "rs1181751894", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1181751894" }, { "id": "rs1181751894", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1181751894#frequency_tab" }, { "id": "rs1181751894", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1181751894" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NPT->NLT).", "chr_id": "3", "chr_pos": "37777432", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P861", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1181751894", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1181751894" }, { "id": "rs1181751894", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1181751894#frequency_tab" }, { "id": "rs1181751894", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1181751894" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NPT->NRT).", "chr_id": "3", "chr_pos": "37777432", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P861", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q13797", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NPT->NST).", "chr_id": "3", "chr_pos": "37777431", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P861", "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": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q13797-1.854.854", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q13797-1.856.856", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q13797-1.88.88", "start_pos": 88, "end_pos": 88, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13797", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PKADSKYSPSVKSPGAVFKC", "down_seq": "VHTNPDRRCTELDMARGKNR", "snv": [ { "evidence": [ { "id": "Q13797", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797" } ], "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 (5).", "chr_id": "3", "chr_pos": "37471084", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R88", "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: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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q13797-1.99.99", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13797-1.906.906", "start_pos": 906, "end_pos": 906, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13797", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RKVLDCEKPGISCLTAHCNF", "down_seq": "ALAKEESRTIDIYMLLNTEI", "snv": [ { "evidence": [ { "id": "Q13797", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NFS->NFI).", "chr_id": "3", "chr_pos": "37779951", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S906", "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": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q13797-1.904.904", "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": "Q13797-1.984.984", "start_pos": 984, "end_pos": 984, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13797", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "VVFEALHNLEPRGYVVGWII", "down_seq": "ISLLVGILIFLLLAVLLWKM", "snv": [ { "evidence": [ { "id": "Q13797", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "37803883", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A984", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13797-1.99.99", "start_pos": 99, "end_pos": 99, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13797", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "KSPGAVFKCRVHTNPDRRCT", "down_seq": "LDMARGKNRGTSCGKTCRED", "snv": [ { "evidence": [ { "id": "Q13797", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13797" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "3", "chr_pos": "37471116", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E99", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/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": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q13797-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q13797-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q13797-1.117.117", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13797-1.296.296", "start_pos": 296, "end_pos": 296, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deciphering the landscape of phosphorylated HLA-II ligands.", "journal": "iScience", "date": "2022-05-20", "authors": "Solleder Marthe, Racle Julien, Guillaume Philippe, Coukos George, Bassani-Sternberg Michal, Gfeller David", "evidence": [ { "database": "iPTMnet", "id": "Q13797", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q13797" } ], "reference": [ { "type": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ] } ], "crossref": [ { "id": "Q13797", "url": "https://www.iedb.org/epitope/Q13797", "database": "IEDB", "categories": [ "Other" ] }, { "id": "Q13797", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q13797", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KVYIFRADRRSGTLIKIFQA", "down_seq": "GKKMGSYFGSSLCAVDLNGD", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "IEDB", "id": "Q13797", "url": "https://www.iedb.org/epitope/Q13797" }, { "database": "iPTMnet", "id": "Q13797", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q13797" }, { "database": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ], "site_lbl": "Ser296" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "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": "Q13797-1.939.939", "start_pos": 939, "end_pos": 939, "uniprot_canonical_ac": "Q13797-1", "length": 1035, "uniprot_id": "ITA9_HUMAN", "protein_name": "Integrin alpha-9", "refseq_ac": "NP_002198", "refseq_name": "integrin alpha-9 precursor", "gene_name": "ITGA9", "gene_names_uniprotkb": "ITGA9", "gene_names_refseq": "ALPHA-RLC; ITGA4L; ITGA9; RLC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13797", "url": "https://www.uniprot.org/uniprotkb/Q13797" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phosphopeptide enrichment by aliphatic hydroxy acid-modified metal oxide chromatography for nano-LC-MS/MS in proteomics applications.", "journal": "Molecular & cellular proteomics : MCP", "date": "2007", "authors": "Sugiyama N, Masuda T, Shinoda K, Nakamura A, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "Q13797", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q13797" } ], "reference": [ { "type": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ] } ], "crossref": [ { "id": "Q13797", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q13797", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "YMLLNTEILKKDSSSVIQFM", "down_seq": "RAKVKVDPALRVVEIAHGNP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q13797", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q13797" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ], "site_lbl": "Ser939" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "225", "end_pos": "225" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "658", "end_pos": "658" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "904", "end_pos": "904" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "424", "end_pos": "424" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "656", "end_pos": "656" }, { "start_pos": "660", "end_pos": "660" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "856", "end_pos": "856" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "904", "end_pos": "904" }, { "start_pos": "906", "end_pos": "906" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "939", "end_pos": "939" } ] } ], "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": "Q8NAB2-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q8NAB2-1", "length": 612, "uniprot_id": "KBTB3_HUMAN", "protein_name": "Kelch repeat and BTB domain-containing protein 3", "refseq_ac": "NP_689646", "refseq_name": "kelch repeat and BTB domain-containing protein 3 isoform 1", "gene_name": "KBTBD3", "gene_names_uniprotkb": "KBTBD3; BKLHD3", "gene_names_refseq": "BKLHD3; KBTBD3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NAB2", "url": "https://www.uniprot.org/uniprotkb/Q8NAB2" } ], "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": "Q8NAB2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NAB2" } ], "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": "Q8NAB2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NAB2", "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": "Q8NAB2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NAB2" } ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "67", "end_pos": "67" } ] } ], "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": "Q8NAB2-1.335.335", "start_pos": 335, "end_pos": 335, "uniprot_canonical_ac": "Q8NAB2-1", "length": 612, "uniprot_id": "KBTB3_HUMAN", "protein_name": "Kelch repeat and BTB domain-containing protein 3", "refseq_ac": "NP_689646", "refseq_name": "kelch repeat and BTB domain-containing protein 3 isoform 1", "gene_name": "KBTBD3", "gene_names_uniprotkb": "KBTBD3; BKLHD3", "gene_names_refseq": "BKLHD3; KBTBD3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NAB2", "url": "https://www.uniprot.org/uniprotkb/Q8NAB2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NAB2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NAB2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NIKSDSWKILPQSHLIDLPG", "down_seq": "SLSSYGEKIFLTGGCKGKCC", "snv": [ { "evidence": [ { "id": "Q8NAB2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NAB2" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "11", "chr_pos": "106053685", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S335", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "356", "end_pos": "356" }, { "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": 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": "Q8NAB2-1.356.356", "start_pos": 356, "end_pos": 356, "uniprot_canonical_ac": "Q8NAB2-1", "length": 612, "uniprot_id": "KBTB3_HUMAN", "protein_name": "Kelch repeat and BTB domain-containing protein 3", "refseq_ac": "NP_689646", "refseq_name": "kelch repeat and BTB domain-containing protein 3 isoform 1", "gene_name": "KBTBD3", "gene_names_uniprotkb": "KBTBD3; BKLHD3", "gene_names_refseq": "BKLHD3; KBTBD3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NAB2", "url": "https://www.uniprot.org/uniprotkb/Q8NAB2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NAB2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NAB2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SLSSYGEKIFLTGGCKGKCC", "down_seq": "TVRLHIAESYHDATDQTWCY", "snv": [ { "evidence": [ { "id": "Q8NAB2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NAB2" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "11", "chr_pos": "106053623", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R356", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q8NAB2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NAB2" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "11", "chr_pos": "106053622", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R356", "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:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "356", "end_pos": "356" }, { "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": 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": "Q8NAB2-1.67.67", "start_pos": 67, "end_pos": 67, "uniprot_canonical_ac": "Q8NAB2-1", "length": 612, "uniprot_id": "KBTB3_HUMAN", "protein_name": "Kelch repeat and BTB domain-containing protein 3", "refseq_ac": "NP_689646", "refseq_name": "kelch repeat and BTB domain-containing protein 3 isoform 1", "gene_name": "KBTBD3", "gene_names_uniprotkb": "KBTBD3; BKLHD3", "gene_names_refseq": "BKLHD3; KBTBD3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NAB2", "url": "https://www.uniprot.org/uniprotkb/Q8NAB2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NAB2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NAB2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "EQNVFYDFKIIMKDEIIPCH", "down_seq": "CVLAACSDFFRAMFEVNMKE", "snv": [ { "evidence": [ { "id": "Q8NAB2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NAB2" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "11", "chr_pos": "106058899", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R67", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "356", "end_pos": "356" }, { "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": "Q15842-1.65.65", "start_pos": 65, "end_pos": 65, "uniprot_canonical_ac": "Q15842-1", "length": 424, "uniprot_id": "KCNJ8_HUMAN", "protein_name": "ATP-sensitive inward rectifier potassium channel 8", "refseq_ac": "NP_004973", "refseq_name": "ATP-sensitive inward rectifier potassium channel 8", "gene_name": "KCNJ8", "gene_names_uniprotkb": "KCNJ8", "gene_names_refseq": "KCNJ8; KIR6.1; uKATP-1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15842", "url": "https://www.uniprot.org/uniprotkb/Q15842" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel.", "journal": "The Journal of biological chemistry", "date": "2017", "authors": "Cooper PE, McClenaghan C, Chen X, Stary-Weinzinger A, Nichols CG", "evidence": [ { "database": "UniProtKB", "id": "Q15842", "url": "https://www.uniprot.org/uniprotkb/Q15842" } ], "reference": [ { "type": "PubMed", "id": "28842488", "url": "https://glygen.org/publication/PubMed/28842488" } ] } ], "crossref": [ { "id": "Q15842", "url": "https://www.uniprot.org/uniprotkb/Q15842", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "28842488", "url": "https://glygen.org/publication/PubMed/28842488", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "LAHKNIREQGRFLQDIFTTL", "down_seq": "DLKWRHTLVIFTMSFLCSWL", "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "No effect on channel activity.", "evidence": [ { "database": "UniProtKB", "id": "Q15842", "url": "https://www.uniprot.org/uniprotkb/Q15842" }, { "database": "PubMed", "id": "28842488", "url": "https://glygen.org/publication/PubMed/28842488" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "65", "end_pos": "65" } ] }, { "type": "snv", "site_list": [ { "start_pos": "202", "end_pos": "202" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "417", "end_pos": "417" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "6", "end_pos": "6" } ] } ], "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": "Q15842-1.202.202", "start_pos": 202, "end_pos": 202, "uniprot_canonical_ac": "Q15842-1", "length": 424, "uniprot_id": "KCNJ8_HUMAN", "protein_name": "ATP-sensitive inward rectifier potassium channel 8", "refseq_ac": "NP_004973", "refseq_name": "ATP-sensitive inward rectifier potassium channel 8", "gene_name": "KCNJ8", "gene_names_uniprotkb": "KCNJ8", "gene_names_refseq": "KCNJ8; KIR6.1; uKATP-1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15842", "url": "https://www.uniprot.org/uniprotkb/Q15842" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15842", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15842", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "AQAHRRAETLIFSRHAVIAV", "down_seq": "NGKLCFMFRVGDLRKSMIIS", "snv": [ { "evidence": [ { "id": "Q15842", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15842" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "21766393", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R202", "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": "mutagenesis", "site_list": [ { "start_pos": "65", "end_pos": "65" } ] }, { "type": "snv", "site_list": [ { "start_pos": "202", "end_pos": "202" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "417", "end_pos": "417" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "6", "end_pos": "6" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15842-1.226.226", "start_pos": 226, "end_pos": 226, "uniprot_canonical_ac": "Q15842-1", "length": 424, "uniprot_id": "KCNJ8_HUMAN", "protein_name": "ATP-sensitive inward rectifier potassium channel 8", "refseq_ac": "NP_004973", "refseq_name": "ATP-sensitive inward rectifier potassium channel 8", "gene_name": "KCNJ8", "gene_names_uniprotkb": "KCNJ8", "gene_names_refseq": "KCNJ8; KIR6.1; uKATP-1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15842", "url": "https://www.uniprot.org/uniprotkb/Q15842" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15842", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15842", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LCFMFRVGDLRKSMIISASV", "down_seq": "IQVVKKTTTPEGEVVPIHQL", "snv": [ { "evidence": [ { "id": "Q15842", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15842" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "12", "chr_pos": "21766322", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R226", "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: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: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" ] }, { "evidence": [ { "id": "Q15842", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15842" } ], "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": "12", "chr_pos": "21766321", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R226", "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:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/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": "65", "end_pos": "65" } ] }, { "type": "snv", "site_list": [ { "start_pos": "202", "end_pos": "202" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "417", "end_pos": "417" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "6", "end_pos": "6" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q15842-1.234.234", "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": "Q15842-1.23.23", "start_pos": 23, "end_pos": 23, "uniprot_canonical_ac": "Q15842-1", "length": 424, "uniprot_id": "KCNJ8_HUMAN", "protein_name": "ATP-sensitive inward rectifier potassium channel 8", "refseq_ac": "NP_004973", "refseq_name": "ATP-sensitive inward rectifier potassium channel 8", "gene_name": "KCNJ8", "gene_names_uniprotkb": "KCNJ8", "gene_names_refseq": "KCNJ8; KIR6.1; uKATP-1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15842", "url": "https://www.uniprot.org/uniprotkb/Q15842" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15842", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15842", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ARKSIIPEEYVLARIAAENL", "down_seq": "KPRIRDRLPKARFIAKSGAC", "snv": [ { "evidence": [ { "id": "Q15842", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15842" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "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": "12", "chr_pos": "21773550", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R23", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "65", "end_pos": "65" } ] }, { "type": "snv", "site_list": [ { "start_pos": "202", "end_pos": "202" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "417", "end_pos": "417" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "6", "end_pos": "6" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q15842-1.6.6", "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": "Q15842-1.274.274", "start_pos": 274, "end_pos": 274, "uniprot_canonical_ac": "Q15842-1", "length": 424, "uniprot_id": "KCNJ8_HUMAN", "protein_name": "ATP-sensitive inward rectifier potassium channel 8", "refseq_ac": "NP_004973", "refseq_name": "ATP-sensitive inward rectifier potassium channel 8", "gene_name": "KCNJ8", "gene_names_uniprotkb": "KCNJ8", "gene_names_refseq": "KCNJ8; KIR6.1; uKATP-1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15842", "url": "https://www.uniprot.org/uniprotkb/Q15842" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15842", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15842", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "IESNNIFLVAPLIICHVIDK", "down_seq": "SPLYDISATDLANQDLEVIV", "snv": [ { "evidence": [ { "id": "Q15842", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15842" } ], "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": "12", "chr_pos": "21766177", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R274", "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:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "65", "end_pos": "65" } ] }, { "type": "snv", "site_list": [ { "start_pos": "202", "end_pos": "202" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "417", "end_pos": "417" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "6", "end_pos": "6" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15842-1.310.310", "start_pos": 310, "end_pos": 310, "uniprot_canonical_ac": "Q15842-1", "length": 424, "uniprot_id": "KCNJ8_HUMAN", "protein_name": "ATP-sensitive inward rectifier potassium channel 8", "refseq_ac": "NP_004973", "refseq_name": "ATP-sensitive inward rectifier potassium channel 8", "gene_name": "KCNJ8", "gene_names_uniprotkb": "KCNJ8", "gene_names_refseq": "KCNJ8; KIR6.1; uKATP-1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15842", "url": "https://www.uniprot.org/uniprotkb/Q15842" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15842", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15842", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LEVIVILEGVVETTGITTQA", "down_seq": "TSYIAEEIQWGHRFVSIVTE", "snv": [ { "evidence": [ { "id": "Q15842", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15842" } ], "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": "12", "chr_pos": "21766069", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R310", "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": "mutagenesis", "site_list": [ { "start_pos": "65", "end_pos": "65" } ] }, { "type": "snv", "site_list": [ { "start_pos": "202", "end_pos": "202" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "417", "end_pos": "417" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "6", "end_pos": "6" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15842-1.353.353", "start_pos": 353, "end_pos": 353, "uniprot_canonical_ac": "Q15842-1", "length": 424, "uniprot_id": "KCNJ8_HUMAN", "protein_name": "ATP-sensitive inward rectifier potassium channel 8", "refseq_ac": "NP_004973", "refseq_name": "ATP-sensitive inward rectifier potassium channel 8", "gene_name": "KCNJ8", "gene_names_uniprotkb": "KCNJ8", "gene_names_refseq": "KCNJ8; KIR6.1; uKATP-1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15842", "url": "https://www.uniprot.org/uniprotkb/Q15842" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15842", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15842", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "GVYSVDYSKFGNTVKVAAPR", "down_seq": "SARELDEKPSILIQTLQKSE", "snv": [ { "evidence": [ { "id": "Q15842", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15842" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "C", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "21765940", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "C353", "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": "mutagenesis", "site_list": [ { "start_pos": "65", "end_pos": "65" } ] }, { "type": "snv", "site_list": [ { "start_pos": "202", "end_pos": "202" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "417", "end_pos": "417" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "6", "end_pos": "6" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15842-1.379.379", "start_pos": 379, "end_pos": 379, "uniprot_canonical_ac": "Q15842-1", "length": 424, "uniprot_id": "KCNJ8_HUMAN", "protein_name": "ATP-sensitive inward rectifier potassium channel 8", "refseq_ac": "NP_004973", "refseq_name": "ATP-sensitive inward rectifier potassium channel 8", "gene_name": "KCNJ8", "gene_names_uniprotkb": "KCNJ8", "gene_names_refseq": "KCNJ8; KIR6.1; uKATP-1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15842", "url": "https://www.uniprot.org/uniprotkb/Q15842" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15842", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15842", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DEKPSILIQTLQKSELSHQN", "down_seq": "LRKRNSMRRNNSMRRNNSIR", "snv": [ { "evidence": [ { "id": "Q15842", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15842" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "4", "frequency": "0.2", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "21765862", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S379", "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": "65", "end_pos": "65" } ] }, { "type": "snv", "site_list": [ { "start_pos": "202", "end_pos": "202" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "417", "end_pos": "417" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "6", "end_pos": "6" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q15842-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q15842-1.385.385", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q15842-1.397.397", "categories": [ "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": "Q15842-1.383.383", "start_pos": 383, "end_pos": 383, "uniprot_canonical_ac": "Q15842-1", "length": 424, "uniprot_id": "KCNJ8_HUMAN", "protein_name": "ATP-sensitive inward rectifier potassium channel 8", "refseq_ac": "NP_004973", "refseq_name": "ATP-sensitive inward rectifier potassium channel 8", "gene_name": "KCNJ8", "gene_names_uniprotkb": "KCNJ8", "gene_names_refseq": "KCNJ8; KIR6.1; uKATP-1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15842", "url": "https://www.uniprot.org/uniprotkb/Q15842" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15842", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15842", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SILIQTLQKSELSHQNSLRK", "down_seq": "NSMRRNNSMRRNNSIRRNNS", "snv": [ { "evidence": [ { "id": "Q15842", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15842" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "21765850", "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: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": "mutagenesis", "site_list": [ { "start_pos": "65", "end_pos": "65" } ] }, { "type": "snv", "site_list": [ { "start_pos": "202", "end_pos": "202" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "417", "end_pos": "417" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "6", "end_pos": "6" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q15842-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q15842-1.385.385", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q15842-1.397.397", "categories": [ "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": "Q15842-1.397.397", "start_pos": 397, "end_pos": 397, "uniprot_canonical_ac": "Q15842-1", "length": 424, "uniprot_id": "KCNJ8_HUMAN", "protein_name": "ATP-sensitive inward rectifier potassium channel 8", "refseq_ac": "NP_004973", "refseq_name": "ATP-sensitive inward rectifier potassium channel 8", "gene_name": "KCNJ8", "gene_names_uniprotkb": "KCNJ8", "gene_names_refseq": "KCNJ8; KIR6.1; uKATP-1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15842", "url": "https://www.uniprot.org/uniprotkb/Q15842" } ], "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": "Q15842", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15842" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] } ], "crossref": [ { "id": "Q15842", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15842", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "Q15842", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15842", "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": "QNSLRKRNSMRRNNSMRRNN", "down_seq": "IRRNNSSLMVPKVQFMTPEG", "snv": [ { "evidence": [ { "id": "Q15842", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15842" } ], "glycoeffect": [ "n-glyco-sequon-loss", "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": "12", "chr_pos": "21765808", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S397", "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" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q15842", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15842" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser397" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "65", "end_pos": "65" } ] }, { "type": "snv", "site_list": [ { "start_pos": "202", "end_pos": "202" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "417", "end_pos": "417" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "6", "end_pos": "6" } ] } ], "categories": [ "snv_flag", "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q15842-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q15842-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q15842-1.385.385", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q15842-1.417.417", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15842-1.417.417", "start_pos": 417, "end_pos": 417, "uniprot_canonical_ac": "Q15842-1", "length": 424, "uniprot_id": "KCNJ8_HUMAN", "protein_name": "ATP-sensitive inward rectifier potassium channel 8", "refseq_ac": "NP_004973", "refseq_name": "ATP-sensitive inward rectifier potassium channel 8", "gene_name": "KCNJ8", "gene_names_uniprotkb": "KCNJ8", "gene_names_refseq": "KCNJ8; KIR6.1; uKATP-1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15842", "url": "https://www.uniprot.org/uniprotkb/Q15842" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15842", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15842", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "SIRRNNSSLMVPKVQFMTPE", "down_seq": "NQNTSES", "snv": [ { "evidence": [ { "id": "Q15842", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15842" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "13", "frequency": "0.6", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: patient count (13/2053).", "chr_id": "12", "chr_pos": "21765748", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G417", "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": "mutagenesis", "site_list": [ { "start_pos": "65", "end_pos": "65" } ] }, { "type": "snv", "site_list": [ { "start_pos": "202", "end_pos": "202" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "417", "end_pos": "417" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "6", "end_pos": "6" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q15842-1.397.397", "categories": [ "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": "Q15842-1.234.234", "start_pos": 234, "end_pos": 234, "uniprot_canonical_ac": "Q15842-1", "length": 424, "uniprot_id": "KCNJ8_HUMAN", "protein_name": "ATP-sensitive inward rectifier potassium channel 8", "refseq_ac": "NP_004973", "refseq_name": "ATP-sensitive inward rectifier potassium channel 8", "gene_name": "KCNJ8", "gene_names_uniprotkb": "KCNJ8", "gene_names_refseq": "KCNJ8; KIR6.1; uKATP-1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15842", "url": "https://www.uniprot.org/uniprotkb/Q15842" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Multisite phosphorylation mechanism for protein kinase A activation of the smooth muscle ATP-sensitive K+ channel.", "journal": "Circulation research", "date": "2004", "authors": "Quinn KV, Giblin JP, Tinker A", "evidence": [ { "database": "iPTMnet", "id": "Q15842", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15842" } ], "reference": [ { "type": "PubMed", "id": "15087422", "url": "https://glygen.org/publication/PubMed/15087422" } ] } ], "crossref": [ { "id": "Q15842", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15842", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "15087422", "url": "https://glygen.org/publication/PubMed/15087422", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "DLRKSMIISASVRIQVVKKT", "down_seq": "TPEGEVVPIHQLDIPVDNPI", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q15842", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15842" }, { "database": "PubMed", "id": "15087422", "url": "https://glygen.org/publication/PubMed/15087422" } ], "site_lbl": "Thr234" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "65", "end_pos": "65" } ] }, { "type": "snv", "site_list": [ { "start_pos": "202", "end_pos": "202" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "417", "end_pos": "417" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "6", "end_pos": "6" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q15842-1.226.226", "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": "Q15842-1.385.385", "start_pos": 385, "end_pos": 385, "uniprot_canonical_ac": "Q15842-1", "length": 424, "uniprot_id": "KCNJ8_HUMAN", "protein_name": "ATP-sensitive inward rectifier potassium channel 8", "refseq_ac": "NP_004973", "refseq_name": "ATP-sensitive inward rectifier potassium channel 8", "gene_name": "KCNJ8", "gene_names_uniprotkb": "KCNJ8", "gene_names_refseq": "KCNJ8; KIR6.1; uKATP-1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15842", "url": "https://www.uniprot.org/uniprotkb/Q15842" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Multisite phosphorylation mechanism for protein kinase A activation of the smooth muscle ATP-sensitive K+ channel.", "journal": "Circulation research", "date": "2004", "authors": "Quinn KV, Giblin JP, Tinker A", "evidence": [ { "database": "iPTMnet", "id": "Q15842", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15842" } ], "reference": [ { "type": "PubMed", "id": "15087422", "url": "https://glygen.org/publication/PubMed/15087422" } ] } ], "crossref": [ { "id": "Q15842", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15842", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "15087422", "url": "https://glygen.org/publication/PubMed/15087422", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LIQTLQKSELSHQNSLRKRN", "down_seq": "MRRNNSMRRNNSIRRNNSSL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q15842", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15842" }, { "database": "PubMed", "id": "15087422", "url": "https://glygen.org/publication/PubMed/15087422" } ], "site_lbl": "Ser385" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "65", "end_pos": "65" } ] }, { "type": "snv", "site_list": [ { "start_pos": "202", "end_pos": "202" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "417", "end_pos": "417" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "6", "end_pos": "6" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q15842-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q15842-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q15842-1.397.397", "categories": [ "snv_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15842-1.6.6", "start_pos": 6, "end_pos": 6, "uniprot_canonical_ac": "Q15842-1", "length": 424, "uniprot_id": "KCNJ8_HUMAN", "protein_name": "ATP-sensitive inward rectifier potassium channel 8", "refseq_ac": "NP_004973", "refseq_name": "ATP-sensitive inward rectifier potassium channel 8", "gene_name": "KCNJ8", "gene_names_uniprotkb": "KCNJ8", "gene_names_refseq": "KCNJ8; KIR6.1; uKATP-1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15842", "url": "https://www.uniprot.org/uniprotkb/Q15842" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15842", "url": "https://www.uniprot.org/uniprotkb/Q15842", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MLARK", "down_seq": "IIPEEYVLARIAAENLRKPR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15842", "url": "https://www.uniprot.org/uniprotkb/Q15842" } ], "site_lbl": "Ser6" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "65", "end_pos": "65" } ] }, { "type": "snv", "site_list": [ { "start_pos": "202", "end_pos": "202" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "417", "end_pos": "417" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "6", "end_pos": "6" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "upstream", "id": "Q15842-1.23.23", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NXV2-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q9NXV2-1", "length": 234, "uniprot_id": "KCTD5_HUMAN", "protein_name": "BTB/POZ domain-containing protein KCTD5", "refseq_ac": "NP_061865", "refseq_name": "BTB/POZ domain-containing protein KCTD5", "gene_name": "KCTD5", "gene_names_uniprotkb": "KCTD5", "gene_names_refseq": "KCTD5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NXV2", "url": "https://www.uniprot.org/uniprotkb/Q9NXV2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Genetic manipulation of OGT enhances NK cell-mediated cytotoxicity in tumor immunity.", "journal": "Journal of advanced research", "date": "2025-09-04", "authors": "Oh Se-Chan, Jeon Bong Chan, Jang In-Hwan, Song Mi-Ran, Hwang Heeyoun, An Dasom, Yue Liu, Jung Yuri, Lee Yunhee, Jo Seona, Park Sung-Kyun, Kim Tae-Don", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9NXV2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NXV2" } ], "reference": [ { "type": "PubMed", "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422" } ] }, { "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": "Q9NXV2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NXV2" } ], "reference": [ { "type": "PubMed", "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811" } ] } ], "crossref": [ { "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NXV2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NXV2", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811", "database": "PubMed", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "40914422", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40914422" }, { "id": "Q9NXV2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NXV2" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" } ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "178", "end_pos": "178" }, { "start_pos": "200", "end_pos": "200" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "10", "end_pos": "10" }, { "start_pos": "147", "end_pos": "147" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "Q9NXV2-1.10.10", "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": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NXV2-1.178.178", "start_pos": 178, "end_pos": 178, "uniprot_canonical_ac": "Q9NXV2-1", "length": 234, "uniprot_id": "KCTD5_HUMAN", "protein_name": "BTB/POZ domain-containing protein KCTD5", "refseq_ac": "NP_061865", "refseq_name": "BTB/POZ domain-containing protein KCTD5", "gene_name": "KCTD5", "gene_names_uniprotkb": "KCTD5", "gene_names_refseq": "KCTD5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NXV2", "url": "https://www.uniprot.org/uniprotkb/Q9NXV2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NXV2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NXV2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "YRVLQCQEEELTQMVSTMSD", "down_seq": "WKFEQLVSIGSSYNYGNEDQ", "snv": [ { "evidence": [ { "id": "Q9NXV2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NXV2" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "2699900", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G178", "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": "178", "end_pos": "178" }, { "start_pos": "200", "end_pos": "200" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "10", "end_pos": "10" }, { "start_pos": "147", "end_pos": "147" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NXV2-1.200.200", "start_pos": 200, "end_pos": 200, "uniprot_canonical_ac": "Q9NXV2-1", "length": 234, "uniprot_id": "KCTD5_HUMAN", "protein_name": "BTB/POZ domain-containing protein KCTD5", "refseq_ac": "NP_061865", "refseq_name": "BTB/POZ domain-containing protein KCTD5", "gene_name": "KCTD5", "gene_names_uniprotkb": "KCTD5", "gene_names_refseq": "KCTD5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NXV2", "url": "https://www.uniprot.org/uniprotkb/Q9NXV2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NXV2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NXV2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "KFEQLVSIGSSYNYGNEDQA", "down_seq": "FLCVVSKELHNTPYGTASEP", "snv": [ { "evidence": [ { "id": "Q9NXV2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NXV2" } ], "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": "2702401", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E200", "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: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:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "178", "end_pos": "178" }, { "start_pos": "200", "end_pos": "200" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "10", "end_pos": "10" }, { "start_pos": "147", "end_pos": "147" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NXV2-1.10.10", "start_pos": 10, "end_pos": 10, "uniprot_canonical_ac": "Q9NXV2-1", "length": 234, "uniprot_id": "KCTD5_HUMAN", "protein_name": "BTB/POZ domain-containing protein KCTD5", "refseq_ac": "NP_061865", "refseq_name": "BTB/POZ domain-containing protein KCTD5", "gene_name": "KCTD5", "gene_names_uniprotkb": "KCTD5", "gene_names_refseq": "KCTD5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NXV2", "url": "https://www.uniprot.org/uniprotkb/Q9NXV2" } ], "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": "Q9NXV2", "url": "https://www.uniprot.org/uniprotkb/Q9NXV2" }, { "database": "iPTMnet", "id": "Q9NXV2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NXV2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q9NXV2", "url": "https://www.uniprot.org/uniprotkb/Q9NXV2" }, { "database": "iPTMnet", "id": "Q9NXV2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NXV2" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q9NXV2", "url": "https://www.uniprot.org/uniprotkb/Q9NXV2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NXV2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NXV2", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MAENHCELL", "down_seq": "PARGGIGAGLGGGLCRRCSA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9NXV2", "url": "https://www.uniprot.org/uniprotkb/Q9NXV2" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9NXV2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NXV2" } ], "site_lbl": "Ser10" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "178", "end_pos": "178" }, { "start_pos": "200", "end_pos": "200" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "10", "end_pos": "10" }, { "start_pos": "147", "end_pos": "147" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q9NXV2-1.0.0", "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": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NXV2-1.147.147", "start_pos": 147, "end_pos": 147, "uniprot_canonical_ac": "Q9NXV2-1", "length": 234, "uniprot_id": "KCTD5_HUMAN", "protein_name": "BTB/POZ domain-containing protein KCTD5", "refseq_ac": "NP_061865", "refseq_name": "BTB/POZ domain-containing protein KCTD5", "gene_name": "KCTD5", "gene_names_uniprotkb": "KCTD5", "gene_names_refseq": "KCTD5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NXV2", "url": "https://www.uniprot.org/uniprotkb/Q9NXV2" } ], "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": "Q9NXV2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NXV2" } ], "reference": [ { "type": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ] } ], "crossref": [ { "id": "Q9NXV2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NXV2", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EFYNITSLIKLVKDKIRERD", "down_seq": "KTSQVPVKHVYRVLQCQEEE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NXV2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NXV2" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ], "site_lbl": "Ser147" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "178", "end_pos": "178" }, { "start_pos": "200", "end_pos": "200" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "10", "end_pos": "10" }, { "start_pos": "147", "end_pos": "147" } ] } ], "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": "O14649-1.53.53", "start_pos": 53, "end_pos": 53, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "PELIERQRLELRQQELRARY", "down_seq": "LSQGGYEELERVVLRLKPHK", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn53", "evidence": [ { "id": "O14649", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O14649#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O14649-1.130.130", "start_pos": 130, "end_pos": 130, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "CMFYALLGIPLTLVMFQSLG", "down_seq": "RINTLVRYLLHRAKKGLGMR", "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "C", "comment": "No effect on channel basal activity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "O14649-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.131.131", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.132.132", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O14649-1.133.133", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O14649-1.134.134", "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": "O14649-1.131.131", "start_pos": 131, "end_pos": 131, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "MFYALLGIPLTLVMFQSLGE", "down_seq": "INTLVRYLLHRAKKGLGMRR", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Markedly increases potassium current amplitude. Channel hyperactivity is associated with marked decrease of protein surface expression.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] }, { "sequence_org": "R", "sequence_mut": "D", "comment": "Markedly increases potassium current amplitude. Channel hyperactivity is associated with marked decrease of protein surface expression.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] }, { "sequence_org": "R", "sequence_mut": "E", "comment": "Markedly increases potassium current amplitude.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "O14649-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.130.130", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.132.132", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.133.133", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O14649-1.134.134", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O14649-1.151.151", "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": "O14649-1.132.132", "start_pos": 132, "end_pos": 132, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "FYALLGIPLTLVMFQSLGER", "down_seq": "NTLVRYLLHRAKKGLGMRRA", "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "C", "comment": "No effect on channel basal activity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "O14649-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O14649-1.130.130", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.131.131", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.133.133", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.134.134", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O14649-1.151.151", "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": "O14649-1.133.133", "start_pos": 133, "end_pos": 133, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.", "journal": "Nature genetics", "date": "2022-10", "authors": "S\u00f6rmann Janina, Schewe Marcus, Proks Peter, Jouen-Tachoire Thibault, Rao Shanlin, Riel Elena B, Agre Katherine E, Begtrup Amber, Dean John, Descartes Maria, Fischer Jan, Gardham Alice, Lahner Carrie, Mark Paul R, Muppidi Srikanth, Pichurin Pavel N, Porrmann Joseph, Schallner Jens, Smith Kirstin, Straub Volker, Vasudevan Pradeep, Willaert Rebecca, Carpenter Elisabeth P, R\u00f6dstr\u00f6m Karin E J, Hahn Michael G, M\u00fcller Thomas, Baukrowitz Thomas, Hurles Matthew E, Wright Caroline F, Tucker Stephen J", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "RefSeq", "id": "NP_002237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002237" } ], "reference": [ { "type": "PubMed", "id": "36195757", "url": "https://glygen.org/publication/PubMed/36195757" } ] }, { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "36195757", "url": "https://glygen.org/publication/PubMed/36195757", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "YALLGIPLTLVMFQSLGERI", "down_seq": "TLVRYLLHRAKKGLGMRRAD", "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Increases potassium current.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "36195757", "url": "https://glygen.org/publication/PubMed/36195757" } ] }, { "sequence_org": "N", "sequence_mut": "C", "comment": "Markedly increases potassium current amplitude. Channel hyperactivity is associated with marked decrease of protein surface expression.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] }, { "sequence_org": "N", "sequence_mut": "D", "comment": "Increases potassium current.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "36195757", "url": "https://glygen.org/publication/PubMed/36195757" } ] }, { "sequence_org": "N", "sequence_mut": "F", "comment": "Increases potassium current.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "36195757", "url": "https://glygen.org/publication/PubMed/36195757" } ] }, { "sequence_org": "N", "sequence_mut": "Q", "comment": "Increases potassium current.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "36195757", "url": "https://glygen.org/publication/PubMed/36195757" } ] }, { "sequence_org": "N", "sequence_mut": "T", "comment": "Increases potassium current.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "36195757", "url": "https://glygen.org/publication/PubMed/36195757" } ] }, { "sequence_org": "N", "sequence_mut": "V", "comment": "Increases potassium current.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "36195757", "url": "https://glygen.org/publication/PubMed/36195757" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "O14649-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O14649-1.130.130", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O14649-1.131.131", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.132.132", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.134.134", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O14649-1.151.151", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O14649-1.153.153", "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": "O14649-1.134.134", "start_pos": 134, "end_pos": 134, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ALLGIPLTLVMFQSLGERIN", "down_seq": "LVRYLLHRAKKGLGMRRADV", "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "C", "comment": "No effect on channel basal activity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "O14649-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O14649-1.130.130", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O14649-1.131.131", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O14649-1.132.132", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.133.133", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O14649-1.151.151", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O14649-1.153.153", "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": "O14649-1.199.199", "start_pos": 199, "end_pos": 199, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A Non-canonical Voltage-Sensing Mechanism Controls Gating in K2P K(+) Channels.", "journal": "Cell", "date": "2016-02-25", "authors": "Schewe Marcus, Nematian-Ardestani Ehsan, Sun Han, Musinszki Marianne, Cordeiro S\u00f6nke, Bucci Giovanna, de Groot Bert L, Tucker Stephen J, Rapedius Markus, Baukrowitz Thomas", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "26919430", "url": "https://glygen.org/publication/PubMed/26919430" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "26919430", "url": "https://glygen.org/publication/PubMed/26919430", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SHYEHWTFFQAYYYCFITLT", "down_seq": "IGFGDYVALQKDQALQTQPQ", "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "C", "comment": "Abolishes voltage gating. Conducts currents with linear I-V relationship characteristic of classical leak channels.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "26919430", "url": "https://glygen.org/publication/PubMed/26919430" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "O14649-1.201.201", "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": "O14649-1.230.230", "start_pos": 230, "end_pos": 230, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KDQALQTQPQYVAFSFVYIL", "down_seq": "GLTVIGAFLNLVVLRFMTMN", "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "No effect on channel basal activity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "O14649-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.231.231", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.232.232", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O14649-1.233.233", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O14649-1.234.234", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O14649-1.235.235", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O14649-1.236.236", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O14649-1.237.237", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O14649-1.238.238", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O14649-1.239.239", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O14649-1.240.240", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O14649-1.241.241", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O14649-1.242.242", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O14649-1.243.243", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O14649-1.244.244", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O14649-1.245.245", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O14649-1.246.246", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O14649-1.247.247", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O14649-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O14649-1.249.249", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O14649-1.250.250", "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": "O14649-1.231.231", "start_pos": 231, "end_pos": 231, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "DQALQTQPQYVAFSFVYILT", "down_seq": "LTVIGAFLNLVVLRFMTMNA", "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "No effect on channel basal activity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "O14649-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.230.230", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.232.232", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.233.233", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O14649-1.234.234", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O14649-1.235.235", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O14649-1.236.236", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O14649-1.237.237", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O14649-1.238.238", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O14649-1.239.239", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O14649-1.240.240", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O14649-1.241.241", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O14649-1.242.242", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O14649-1.243.243", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O14649-1.244.244", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O14649-1.245.245", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O14649-1.246.246", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O14649-1.247.247", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O14649-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O14649-1.249.249", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O14649-1.250.250", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O14649-1.251.251", "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": "O14649-1.232.232", "start_pos": 232, "end_pos": 232, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "QALQTQPQYVAFSFVYILTG", "down_seq": "TVIGAFLNLVVLRFMTMNAE", "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "No effect on channel basal activity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "O14649-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O14649-1.230.230", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.231.231", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.233.233", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.234.234", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O14649-1.235.235", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O14649-1.236.236", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O14649-1.237.237", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O14649-1.238.238", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O14649-1.239.239", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O14649-1.240.240", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O14649-1.241.241", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O14649-1.242.242", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O14649-1.243.243", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O14649-1.244.244", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O14649-1.245.245", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O14649-1.246.246", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O14649-1.247.247", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O14649-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O14649-1.249.249", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O14649-1.250.250", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O14649-1.251.251", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O14649-1.252.252", "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": "O14649-1.233.233", "start_pos": 233, "end_pos": 233, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ALQTQPQYVAFSFVYILTGL", "down_seq": "VIGAFLNLVVLRFMTMNAED", "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "No effect on channel basal activity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "O14649-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O14649-1.230.230", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O14649-1.231.231", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.232.232", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.234.234", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.235.235", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O14649-1.236.236", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O14649-1.237.237", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O14649-1.238.238", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O14649-1.239.239", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O14649-1.240.240", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O14649-1.241.241", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O14649-1.242.242", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O14649-1.243.243", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O14649-1.244.244", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O14649-1.245.245", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O14649-1.246.246", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O14649-1.247.247", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O14649-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O14649-1.249.249", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O14649-1.250.250", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O14649-1.251.251", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O14649-1.252.252", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O14649-1.253.253", "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": "O14649-1.234.234", "start_pos": 234, "end_pos": 234, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "LQTQPQYVAFSFVYILTGLT", "down_seq": "IGAFLNLVVLRFMTMNAEDE", "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "No effect on channel basal activity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "O14649-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O14649-1.230.230", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O14649-1.231.231", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O14649-1.232.232", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.233.233", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.235.235", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.236.236", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O14649-1.237.237", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O14649-1.238.238", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O14649-1.239.239", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O14649-1.240.240", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O14649-1.241.241", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O14649-1.242.242", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O14649-1.243.243", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O14649-1.244.244", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O14649-1.245.245", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O14649-1.246.246", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O14649-1.247.247", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O14649-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O14649-1.249.249", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O14649-1.250.250", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O14649-1.251.251", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O14649-1.252.252", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O14649-1.253.253", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O14649-1.254.254", "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": "O14649-1.235.235", "start_pos": 235, "end_pos": 235, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "QTQPQYVAFSFVYILTGLTV", "down_seq": "GAFLNLVVLRFMTMNAEDEK", "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "A", "comment": "No effect on channel basal activity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "O14649-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O14649-1.230.230", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O14649-1.231.231", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O14649-1.232.232", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O14649-1.233.233", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.234.234", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.236.236", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.237.237", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O14649-1.238.238", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O14649-1.239.239", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O14649-1.240.240", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O14649-1.241.241", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O14649-1.242.242", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O14649-1.243.243", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O14649-1.244.244", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O14649-1.245.245", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O14649-1.246.246", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O14649-1.247.247", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O14649-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O14649-1.249.249", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O14649-1.250.250", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O14649-1.251.251", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O14649-1.252.252", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O14649-1.253.253", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O14649-1.254.254", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O14649-1.255.255", "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": "O14649-1.236.236", "start_pos": 236, "end_pos": 236, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "TQPQYVAFSFVYILTGLTVI", "down_seq": "AFLNLVVLRFMTMNAEDEKR", "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "No effect on channel basal activity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "O14649-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O14649-1.230.230", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O14649-1.231.231", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O14649-1.232.232", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O14649-1.233.233", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O14649-1.234.234", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.235.235", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.237.237", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.238.238", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O14649-1.239.239", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O14649-1.240.240", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O14649-1.241.241", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O14649-1.242.242", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O14649-1.243.243", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O14649-1.244.244", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O14649-1.245.245", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O14649-1.246.246", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O14649-1.247.247", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O14649-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O14649-1.249.249", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O14649-1.250.250", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O14649-1.251.251", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O14649-1.252.252", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O14649-1.253.253", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O14649-1.254.254", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O14649-1.255.255", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O14649-1.256.256", "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": "O14649-1.237.237", "start_pos": 237, "end_pos": 237, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "QPQYVAFSFVYILTGLTVIG", "down_seq": "FLNLVVLRFMTMNAEDEKRD", "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Markedly increases potassium current amplitude. Channel hyperactivity is associated with marked decrease of protein surface expression.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "O14649-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O14649-1.230.230", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O14649-1.231.231", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O14649-1.232.232", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O14649-1.233.233", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O14649-1.234.234", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O14649-1.235.235", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.236.236", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.238.238", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.239.239", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O14649-1.240.240", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O14649-1.241.241", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O14649-1.242.242", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O14649-1.243.243", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O14649-1.244.244", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O14649-1.245.245", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O14649-1.246.246", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O14649-1.247.247", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O14649-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O14649-1.249.249", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O14649-1.250.250", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O14649-1.251.251", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O14649-1.252.252", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O14649-1.253.253", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O14649-1.254.254", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O14649-1.255.255", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O14649-1.256.256", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O14649-1.257.257", "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": "O14649-1.238.238", "start_pos": 238, "end_pos": 238, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "PQYVAFSFVYILTGLTVIGA", "down_seq": "LNLVVLRFMTMNAEDEKRDA", "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "No effect on channel basal activity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "O14649-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O14649-1.230.230", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O14649-1.231.231", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O14649-1.232.232", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O14649-1.233.233", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O14649-1.234.234", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O14649-1.235.235", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O14649-1.236.236", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.237.237", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.239.239", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.240.240", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O14649-1.241.241", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O14649-1.242.242", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O14649-1.243.243", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O14649-1.244.244", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O14649-1.245.245", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O14649-1.246.246", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O14649-1.247.247", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O14649-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O14649-1.249.249", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O14649-1.250.250", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O14649-1.251.251", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O14649-1.252.252", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O14649-1.253.253", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O14649-1.254.254", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O14649-1.255.255", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O14649-1.256.256", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O14649-1.257.257", "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": "O14649-1.239.239", "start_pos": 239, "end_pos": 239, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "QYVAFSFVYILTGLTVIGAF", "down_seq": "NLVVLRFMTMNAEDEKRDAE", "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "No effect on channel basal activity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "O14649-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O14649-1.230.230", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O14649-1.231.231", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O14649-1.232.232", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O14649-1.233.233", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O14649-1.234.234", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O14649-1.235.235", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O14649-1.236.236", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O14649-1.237.237", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.238.238", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.240.240", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.241.241", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O14649-1.242.242", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O14649-1.243.243", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O14649-1.244.244", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O14649-1.245.245", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O14649-1.246.246", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O14649-1.247.247", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O14649-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O14649-1.249.249", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O14649-1.250.250", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O14649-1.251.251", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O14649-1.252.252", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O14649-1.253.253", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O14649-1.254.254", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O14649-1.255.255", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O14649-1.256.256", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O14649-1.257.257", "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": "O14649-1.240.240", "start_pos": 240, "end_pos": 240, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "YVAFSFVYILTGLTVIGAFL", "down_seq": "LVVLRFMTMNAEDEKRDAEH", "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "No effect on channel basal activity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "O14649-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O14649-1.230.230", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O14649-1.231.231", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O14649-1.232.232", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O14649-1.233.233", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O14649-1.234.234", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O14649-1.235.235", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O14649-1.236.236", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O14649-1.237.237", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O14649-1.238.238", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.239.239", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.241.241", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.242.242", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O14649-1.243.243", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O14649-1.244.244", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O14649-1.245.245", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O14649-1.246.246", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O14649-1.247.247", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O14649-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O14649-1.249.249", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O14649-1.250.250", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O14649-1.251.251", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O14649-1.252.252", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O14649-1.253.253", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O14649-1.254.254", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O14649-1.255.255", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O14649-1.256.256", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O14649-1.257.257", "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": "O14649-1.241.241", "start_pos": 241, "end_pos": 241, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "VAFSFVYILTGLTVIGAFLN", "down_seq": "VVLRFMTMNAEDEKRDAEHR", "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Markedly increases potassium current amplitude. Channel hyperactivity is associated with marked decrease of protein surface expression.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "O14649-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O14649-1.230.230", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O14649-1.231.231", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O14649-1.232.232", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O14649-1.233.233", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O14649-1.234.234", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O14649-1.235.235", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O14649-1.236.236", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O14649-1.237.237", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O14649-1.238.238", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O14649-1.239.239", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.240.240", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.242.242", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.243.243", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O14649-1.244.244", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O14649-1.245.245", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O14649-1.246.246", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O14649-1.247.247", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O14649-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O14649-1.249.249", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O14649-1.250.250", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O14649-1.251.251", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O14649-1.252.252", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O14649-1.253.253", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O14649-1.254.254", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O14649-1.255.255", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O14649-1.256.256", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O14649-1.257.257", "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": "O14649-1.242.242", "start_pos": 242, "end_pos": 242, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "AFSFVYILTGLTVIGAFLNL", "down_seq": "VLRFMTMNAEDEKRDAEHRA", "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "No effect on channel basal activity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "O14649-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O14649-1.230.230", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O14649-1.231.231", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O14649-1.232.232", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O14649-1.233.233", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O14649-1.234.234", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O14649-1.235.235", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O14649-1.236.236", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O14649-1.237.237", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O14649-1.238.238", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O14649-1.239.239", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O14649-1.240.240", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.241.241", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.243.243", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.244.244", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O14649-1.245.245", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O14649-1.246.246", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O14649-1.247.247", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O14649-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O14649-1.249.249", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O14649-1.250.250", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O14649-1.251.251", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O14649-1.252.252", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O14649-1.253.253", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O14649-1.254.254", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O14649-1.255.255", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O14649-1.256.256", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O14649-1.257.257", "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": "O14649-1.243.243", "start_pos": 243, "end_pos": 243, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "FSFVYILTGLTVIGAFLNLV", "down_seq": "LRFMTMNAEDEKRDAEHRAL", "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "No effect on channel basal activity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "O14649-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O14649-1.230.230", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O14649-1.231.231", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O14649-1.232.232", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O14649-1.233.233", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O14649-1.234.234", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O14649-1.235.235", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O14649-1.236.236", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O14649-1.237.237", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O14649-1.238.238", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O14649-1.239.239", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O14649-1.240.240", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O14649-1.241.241", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.242.242", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.244.244", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.245.245", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O14649-1.246.246", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O14649-1.247.247", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O14649-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O14649-1.249.249", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O14649-1.250.250", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O14649-1.251.251", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O14649-1.252.252", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O14649-1.253.253", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O14649-1.254.254", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O14649-1.255.255", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O14649-1.256.256", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O14649-1.257.257", "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": "O14649-1.244.244", "start_pos": 244, "end_pos": 244, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "SFVYILTGLTVIGAFLNLVV", "down_seq": "RFMTMNAEDEKRDAEHRALL", "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Markedly increases potassium current amplitude. Channel hyperactivity is associated with marked decrease of protein surface expression.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "O14649-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O14649-1.230.230", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O14649-1.231.231", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O14649-1.232.232", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O14649-1.233.233", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O14649-1.234.234", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O14649-1.235.235", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O14649-1.236.236", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O14649-1.237.237", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O14649-1.238.238", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O14649-1.239.239", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O14649-1.240.240", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O14649-1.241.241", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O14649-1.242.242", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.243.243", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.245.245", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.246.246", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O14649-1.247.247", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O14649-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O14649-1.249.249", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O14649-1.250.250", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O14649-1.251.251", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O14649-1.252.252", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O14649-1.253.253", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O14649-1.254.254", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O14649-1.255.255", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O14649-1.256.256", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O14649-1.257.257", "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": "O14649-1.245.245", "start_pos": 245, "end_pos": 245, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FVYILTGLTVIGAFLNLVVL", "down_seq": "FMTMNAEDEKRDAEHRALLT", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Markedly increases potassium current amplitude. Channel hyperactivity is associated with marked decrease of protein surface expression.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "O14649-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O14649-1.230.230", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O14649-1.231.231", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O14649-1.232.232", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O14649-1.233.233", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O14649-1.234.234", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O14649-1.235.235", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O14649-1.236.236", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O14649-1.237.237", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O14649-1.238.238", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O14649-1.239.239", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O14649-1.240.240", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O14649-1.241.241", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O14649-1.242.242", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O14649-1.243.243", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.244.244", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.246.246", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.247.247", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O14649-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O14649-1.249.249", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O14649-1.250.250", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O14649-1.251.251", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O14649-1.252.252", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O14649-1.253.253", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O14649-1.254.254", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O14649-1.255.255", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O14649-1.256.256", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O14649-1.257.257", "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": "O14649-1.246.246", "start_pos": 246, "end_pos": 246, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "VYILTGLTVIGAFLNLVVLR", "down_seq": "MTMNAEDEKRDAEHRALLTR", "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Increases potassium current amplitude without changing protein surface expression.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "O14649-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O14649-1.230.230", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O14649-1.231.231", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O14649-1.232.232", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O14649-1.233.233", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O14649-1.234.234", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O14649-1.235.235", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O14649-1.236.236", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O14649-1.237.237", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O14649-1.238.238", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O14649-1.239.239", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O14649-1.240.240", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O14649-1.241.241", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O14649-1.242.242", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O14649-1.243.243", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O14649-1.244.244", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.245.245", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.247.247", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O14649-1.249.249", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O14649-1.250.250", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O14649-1.251.251", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O14649-1.252.252", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O14649-1.253.253", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O14649-1.254.254", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O14649-1.255.255", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O14649-1.256.256", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O14649-1.257.257", "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": "O14649-1.247.247", "start_pos": 247, "end_pos": 247, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "YILTGLTVIGAFLNLVVLRF", "down_seq": "TMNAEDEKRDAEHRALLTRN", "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "A", "comment": "Increases potassium current amplitude without changing protein surface expression.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O14649-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O14649-1.230.230", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O14649-1.231.231", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O14649-1.232.232", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O14649-1.233.233", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O14649-1.234.234", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O14649-1.235.235", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O14649-1.236.236", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O14649-1.237.237", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O14649-1.238.238", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O14649-1.239.239", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O14649-1.240.240", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O14649-1.241.241", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O14649-1.242.242", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O14649-1.243.243", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O14649-1.244.244", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O14649-1.245.245", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.246.246", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.249.249", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O14649-1.250.250", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O14649-1.251.251", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O14649-1.252.252", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O14649-1.253.253", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O14649-1.254.254", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O14649-1.255.255", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O14649-1.256.256", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O14649-1.257.257", "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": "O14649-1.248.248", "start_pos": 248, "end_pos": 248, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ILTGLTVIGAFLNLVVLRFM", "down_seq": "MNAEDEKRDAEHRALLTRNG", "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Increases potassium current amplitude without changing protein surface expression.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O14649-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O14649-1.230.230", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O14649-1.231.231", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O14649-1.232.232", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O14649-1.233.233", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O14649-1.234.234", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O14649-1.235.235", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O14649-1.236.236", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O14649-1.237.237", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O14649-1.238.238", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O14649-1.239.239", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O14649-1.240.240", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O14649-1.241.241", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O14649-1.242.242", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O14649-1.243.243", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O14649-1.244.244", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O14649-1.245.245", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O14649-1.246.246", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.247.247", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.249.249", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.250.250", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O14649-1.251.251", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O14649-1.252.252", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O14649-1.253.253", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O14649-1.254.254", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O14649-1.255.255", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O14649-1.256.256", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O14649-1.257.257", "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": "O14649-1.249.249", "start_pos": 249, "end_pos": 249, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "LTGLTVIGAFLNLVVLRFMT", "down_seq": "NAEDEKRDAEHRALLTRNGQ", "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "C", "comment": "No effect on channel basal activity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O14649-1.230.230", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O14649-1.231.231", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O14649-1.232.232", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O14649-1.233.233", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O14649-1.234.234", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O14649-1.235.235", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O14649-1.236.236", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O14649-1.237.237", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O14649-1.238.238", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O14649-1.239.239", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O14649-1.240.240", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O14649-1.241.241", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O14649-1.242.242", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O14649-1.243.243", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O14649-1.244.244", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O14649-1.245.245", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O14649-1.246.246", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O14649-1.247.247", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.250.250", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.251.251", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O14649-1.252.252", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O14649-1.253.253", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O14649-1.254.254", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O14649-1.255.255", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O14649-1.256.256", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O14649-1.257.257", "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": "O14649-1.250.250", "start_pos": 250, "end_pos": 250, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "TGLTVIGAFLNLVVLRFMTM", "down_seq": "AEDEKRDAEHRALLTRNGQA", "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "C", "comment": "Increases channel basal activity associated with a significant decrease of protein surface expression.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] }, { "sequence_org": "N", "sequence_mut": "D", "comment": "Increases channel basal activity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] }, { "sequence_org": "N", "sequence_mut": "R", "comment": "No effect on channel basal activity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O14649-1.230.230", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O14649-1.231.231", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O14649-1.232.232", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O14649-1.233.233", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O14649-1.234.234", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O14649-1.235.235", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O14649-1.236.236", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O14649-1.237.237", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O14649-1.238.238", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O14649-1.239.239", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O14649-1.240.240", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O14649-1.241.241", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O14649-1.242.242", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O14649-1.243.243", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O14649-1.244.244", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O14649-1.245.245", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O14649-1.246.246", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O14649-1.247.247", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O14649-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.249.249", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.251.251", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.252.252", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O14649-1.253.253", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O14649-1.254.254", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O14649-1.255.255", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O14649-1.256.256", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O14649-1.257.257", "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": "O14649-1.251.251", "start_pos": 251, "end_pos": 251, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "GLTVIGAFLNLVVLRFMTMN", "down_seq": "EDEKRDAEHRALLTRNGQAG", "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "C", "comment": "No effect on channel basal activity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O14649-1.231.231", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O14649-1.232.232", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O14649-1.233.233", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O14649-1.234.234", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O14649-1.235.235", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O14649-1.236.236", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O14649-1.237.237", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O14649-1.238.238", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O14649-1.239.239", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O14649-1.240.240", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O14649-1.241.241", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O14649-1.242.242", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O14649-1.243.243", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O14649-1.244.244", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O14649-1.245.245", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O14649-1.246.246", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O14649-1.247.247", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O14649-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O14649-1.249.249", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.250.250", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.252.252", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.253.253", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O14649-1.254.254", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O14649-1.255.255", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O14649-1.256.256", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O14649-1.257.257", "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": "O14649-1.252.252", "start_pos": 252, "end_pos": 252, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "LTVIGAFLNLVVLRFMTMNA", "down_seq": "DEKRDAEHRALLTRNGQAGG", "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "C", "comment": "No effect on channel basal activity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O14649-1.232.232", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O14649-1.233.233", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O14649-1.234.234", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O14649-1.235.235", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O14649-1.236.236", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O14649-1.237.237", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O14649-1.238.238", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O14649-1.239.239", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O14649-1.240.240", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O14649-1.241.241", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O14649-1.242.242", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O14649-1.243.243", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O14649-1.244.244", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O14649-1.245.245", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O14649-1.246.246", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O14649-1.247.247", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O14649-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O14649-1.249.249", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O14649-1.250.250", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.251.251", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.253.253", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.254.254", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O14649-1.255.255", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O14649-1.256.256", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O14649-1.257.257", "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": "O14649-1.253.253", "start_pos": 253, "end_pos": 253, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "TVIGAFLNLVVLRFMTMNAE", "down_seq": "EKRDAEHRALLTRNGQAGGG", "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "C", "comment": "No effect on channel basal activity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] }, { "sequence_org": "D", "sequence_mut": "R", "comment": "No effect on channel basal activity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O14649-1.233.233", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O14649-1.234.234", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O14649-1.235.235", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O14649-1.236.236", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O14649-1.237.237", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O14649-1.238.238", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O14649-1.239.239", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O14649-1.240.240", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O14649-1.241.241", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O14649-1.242.242", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O14649-1.243.243", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O14649-1.244.244", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O14649-1.245.245", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O14649-1.246.246", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O14649-1.247.247", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O14649-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O14649-1.249.249", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O14649-1.250.250", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O14649-1.251.251", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.252.252", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.254.254", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.255.255", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O14649-1.256.256", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O14649-1.257.257", "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": "O14649-1.254.254", "start_pos": 254, "end_pos": 254, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "VIGAFLNLVVLRFMTMNAED", "down_seq": "KRDAEHRALLTRNGQAGGGG", "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "C", "comment": "No effect on channel basal activity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] }, { "sequence_org": "E", "sequence_mut": "R", "comment": "No effect on channel basal activity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O14649-1.234.234", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O14649-1.235.235", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O14649-1.236.236", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O14649-1.237.237", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O14649-1.238.238", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O14649-1.239.239", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O14649-1.240.240", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O14649-1.241.241", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O14649-1.242.242", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O14649-1.243.243", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O14649-1.244.244", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O14649-1.245.245", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O14649-1.246.246", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O14649-1.247.247", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O14649-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O14649-1.249.249", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O14649-1.250.250", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O14649-1.251.251", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O14649-1.252.252", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.253.253", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.255.255", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.256.256", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O14649-1.257.257", "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": "O14649-1.255.255", "start_pos": 255, "end_pos": 255, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "IGAFLNLVVLRFMTMNAEDE", "down_seq": "RDAEHRALLTRNGQAGGGGG", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "C", "comment": "No effect on channel basal activity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O14649-1.235.235", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O14649-1.236.236", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O14649-1.237.237", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O14649-1.238.238", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O14649-1.239.239", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O14649-1.240.240", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O14649-1.241.241", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O14649-1.242.242", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O14649-1.243.243", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O14649-1.244.244", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O14649-1.245.245", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O14649-1.246.246", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O14649-1.247.247", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O14649-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O14649-1.249.249", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O14649-1.250.250", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O14649-1.251.251", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O14649-1.252.252", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O14649-1.253.253", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.254.254", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.256.256", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.257.257", "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": "O14649-1.256.256", "start_pos": 256, "end_pos": 256, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GAFLNLVVLRFMTMNAEDEK", "down_seq": "DAEHRALLTRNGQAGGGGGG", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "No effect on channel basal activity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O14649-1.236.236", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O14649-1.237.237", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O14649-1.238.238", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O14649-1.239.239", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O14649-1.240.240", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O14649-1.241.241", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O14649-1.242.242", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O14649-1.243.243", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O14649-1.244.244", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O14649-1.245.245", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O14649-1.246.246", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O14649-1.247.247", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O14649-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O14649-1.249.249", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O14649-1.250.250", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O14649-1.251.251", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O14649-1.252.252", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O14649-1.253.253", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O14649-1.254.254", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.255.255", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.257.257", "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": "O14649-1.257.257", "start_pos": 257, "end_pos": 257, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "AFLNLVVLRFMTMNAEDEKR", "down_seq": "AEHRALLTRNGQAGGGGGGG", "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "C", "comment": "No effect on channel basal activity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O14649-1.237.237", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O14649-1.238.238", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O14649-1.239.239", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O14649-1.240.240", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "downstream", "id": "O14649-1.241.241", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O14649-1.242.242", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O14649-1.243.243", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O14649-1.244.244", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O14649-1.245.245", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O14649-1.246.246", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O14649-1.247.247", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O14649-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O14649-1.249.249", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O14649-1.250.250", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O14649-1.251.251", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O14649-1.252.252", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O14649-1.253.253", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O14649-1.254.254", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O14649-1.255.255", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.256.256", "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": "O14649-1.4.4", "start_pos": 4, "end_pos": 4, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "MKR", "down_seq": "NVRTLALIVCTFTYLLVGAA", "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "C", "comment": "Increases potassium current amplitude.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "O14649-1.5.5", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.6.6", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O14649-1.7.7", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O14649-1.8.8", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O14649-1.15.15", "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": "O14649-1.5.5", "start_pos": 5, "end_pos": 5, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "MKRQ", "down_seq": "VRTLALIVCTFTYLLVGAAV", "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "C", "comment": "Markedly increases potassium current amplitude. Channel hyperactivity is associated with marked decrease of protein surface expression.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "O14649-1.4.4", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.6.6", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.7.7", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O14649-1.8.8", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O14649-1.15.15", "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": "O14649-1.6.6", "start_pos": 6, "end_pos": 6, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "MKRQN", "down_seq": "RTLALIVCTFTYLLVGAAVF", "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "C", "comment": "No effect on channel basal activity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "O14649-1.4.4", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.5.5", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.7.7", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.8.8", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O14649-1.15.15", "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": "O14649-1.7.7", "start_pos": 7, "end_pos": 7, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "MKRQNV", "down_seq": "TLALIVCTFTYLLVGAAVFD", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Increases potassium current amplitude.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] }, { "sequence_org": "R", "sequence_mut": "D", "comment": "Increases potassium current amplitude associated with a significant decrease of protein surface expression.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] }, { "sequence_org": "R", "sequence_mut": "E", "comment": "Increases potassium current amplitude.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] }, { "sequence_org": "R", "sequence_mut": "K", "comment": "No effect on channel basal activity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "O14649-1.4.4", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O14649-1.5.5", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.6.6", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.8.8", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O14649-1.15.15", "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": "O14649-1.8.8", "start_pos": 8, "end_pos": 8, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A lower X-gate in TASK channels traps inhibitors within the vestibule.", "journal": "Nature", "date": "2020", "authors": "Rodstrom KEJ, Kiper AK, Zhang W, Rinne S, Pike ACW, Goldstein M, Conrad LJ, Delbeck M, Hahn MG, Meier H, Platzk M, Quigley A, Speedman D, Shrestha L, Mukhopadhyay SMM, Burgess-Brown NA, Tucker SJ, Muller T, Decher N, Carpenter EP", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "MKRQNVR", "down_seq": "LALIVCTFTYLLVGAAVFDA", "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "C", "comment": "No effect on channel basal activity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] }, { "sequence_org": "T", "sequence_mut": "K", "comment": "No effect on channel basal activity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "32499642", "url": "https://glygen.org/publication/PubMed/32499642" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "O14649-1.4.4", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O14649-1.5.5", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O14649-1.6.6", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.7.7", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O14649-1.15.15", "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": "O14649-1.98.98", "start_pos": 98, "end_pos": 98, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "TASK-5, a novel member of the tandem pore K+ channel family.", "journal": "Pflugers Archiv : European journal of physiology", "date": "2001", "authors": "Ashmole I, Goodwin PA, Stanfield PR", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "reference": [ { "type": "PubMed", "id": "11680614", "url": "https://glygen.org/publication/PubMed/11680614" } ] } ], "crossref": [ { "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "11680614", "url": "https://glygen.org/publication/PubMed/11680614", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "WRFAGSFYFAITVITTIGYG", "down_seq": "AAPSTDGGKVFCMFYALLGI", "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Greatly reduces pH sensitivity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" }, { "database": "PubMed", "id": "11680614", "url": "https://glygen.org/publication/PubMed/11680614" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "O14649-1.81.81", "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": "O14649-1.123.123", "start_pos": 123, "end_pos": 123, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O14649", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O14649", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "TDGGKVFCMFYALLGIPLTL", "down_seq": "MFQSLGERINTLVRYLLHRA", "snv": [ { "evidence": [ { "id": "O14649", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O14649" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "2", "chr_pos": "26727750", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V123", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID: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": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "O14649-1.130.130", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O14649-1.131.131", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O14649-1.132.132", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O14649-1.133.133", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O14649-1.134.134", "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": "O14649-1.151.151", "start_pos": 151, "end_pos": 151, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O14649", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O14649", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RINTLVRYLLHRAKKGLGMR", "down_seq": "ADVSMANMVLIGFFSCISTL", "snv": [ { "evidence": [ { "id": "O14649", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O14649" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "26727835", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R151", "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": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O14649-1.131.131", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O14649-1.132.132", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "downstream", "id": "O14649-1.133.133", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O14649-1.134.134", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O14649-1.153.153", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O14649-1.153.153", "start_pos": 153, "end_pos": 153, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O14649", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O14649", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "NTLVRYLLHRAKKGLGMRRA", "down_seq": "VSMANMVLIGFFSCISTLCI", "snv": [ { "evidence": [ { "id": "O14649", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O14649" } ], "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 (DVS->NVS).", "chr_id": "2", "chr_pos": "26727840", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D153", "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": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O14649-1.133.133", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "downstream", "id": "O14649-1.134.134", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O14649-1.151.151", "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": "O14649-1.15.15", "start_pos": 15, "end_pos": 15, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1411865818", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1411865818", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1411865818", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1411865818#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1411865818", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1411865818", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "MKRQNVRTLALIVC", "down_seq": "FTYLLVGAAVFDALESEPEL", "snv": [ { "evidence": [ { "id": "rs1411865818", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1411865818" }, { "id": "rs1411865818", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1411865818#frequency_tab" }, { "id": "rs1411865818", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1411865818" } ], "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 (TFT->NFT).", "chr_id": "2", "chr_pos": "26692919", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T15", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "O14649-1.4.4", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O14649-1.5.5", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O14649-1.6.6", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O14649-1.7.7", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O14649-1.8.8", "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": "O14649-1.176.176", "start_pos": 176, "end_pos": 176, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O14649", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O14649", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "MANMVLIGFFSCISTLCIGA", "down_seq": "AFSHYEHWTFFQAYYYCFIT", "snv": [ { "evidence": [ { "id": "O14649", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O14649" } ], "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": "2", "chr_pos": "26727909", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A176", "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:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O14649-1.201.201", "start_pos": 201, "end_pos": 201, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O14649", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O14649", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "YEHWTFFQAYYYCFITLTTI", "down_seq": "FGDYVALQKDQALQTQPQYV", "snv": [ { "evidence": [ { "id": "O14649", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O14649" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "26727984", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G201", "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": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "O14649-1.199.199", "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": "O14649-1.228.228", "start_pos": 228, "end_pos": 228, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O14649", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O14649", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "LQKDQALQTQPQYVAFSFVY", "down_seq": "LTGLTVIGAFLNLVVLRFMT", "snv": [ { "evidence": [ { "id": "O14649", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O14649" } ], "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 (ILT->NLT).", "chr_id": "2", "chr_pos": "26728066", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "I228", "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": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "O14649-1.230.230", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O14649-1.231.231", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O14649-1.232.232", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O14649-1.233.233", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O14649-1.234.234", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O14649-1.235.235", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O14649-1.236.236", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O14649-1.237.237", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O14649-1.238.238", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O14649-1.239.239", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O14649-1.240.240", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O14649-1.241.241", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O14649-1.242.242", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O14649-1.243.243", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O14649-1.244.244", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O14649-1.245.245", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O14649-1.246.246", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O14649-1.247.247", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O14649-1.248.248", "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": "O14649-1.300.300", "start_pos": 300, "end_pos": 300, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1270174897", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1270174897", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1270174897", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1270174897", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "HTTDTASSTAAAGGGGFRNV", "down_seq": "AEVLHFQSMCSCLWYKSREK", "snv": [ { "evidence": [ { "id": "rs1270174897", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1270174897" }, { "id": "rs1270174897", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1270174897" } ], "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": "2", "chr_pos": "26728282", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y300", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O14649-1.337.337", "start_pos": 337, "end_pos": 337, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1325281151", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1325281151", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1325281151", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1325281151", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SREKLQYSIPMIIPRDLSTS", "down_seq": "TCVEQSHSSPGGGGRYSDTP", "snv": [ { "evidence": [ { "id": "rs1325281151", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1325281151" }, { "id": "rs1325281151", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1325281151" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DTC->NTC).", "chr_id": "2", "chr_pos": "26728392", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D337", "disease": [ { "disease_id": "DOID:14557", "recommended_name": { "id": "DOID:14557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14557", "name": "primary pulmonary hypertension", "description": "A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling." }, "synonyms": [ { "id": "DOID:14557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14557", "name": "Idiopathic pulmonary arterial hypertension", "description": "" }, { "id": "MONDO:0009935", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009935", "name": "pulmonary hypertension, primary, 5", "description": "" }, { "id": "MONDO:0009935", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009935", "name": "PPH5", "description": "" }, { "id": "MONDO:0009935", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009935", "name": "pulmonary hypertension, primary, 5, autosomal recessive", "description": "" }, { "id": "MONDO:0014134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014134", "name": "pulmonary hypertension, primary, 2", "description": "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene." }, { "id": "MONDO:0014134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014134", "name": "SMAD9 primary pulmonary hypertension", "description": "" }, { "id": "MONDO:0014134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014134", "name": "primary pulmonary hypertension caused by mutation in SMAD9", "description": "" }, { "id": "MONDO:0014134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014134", "name": "pulmonary hypertension, primary, 2", "description": "" }, { "id": "MONDO:0014134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014134", "name": "pulmonary hypertension, primary, type 2", "description": "" }, { "id": "MONDO:0014134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014134", "name": "PPH2", "description": "" }, { "id": "MONDO:0014135", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014135", "name": "pulmonary hypertension, primary, 3", "description": "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene." }, { "id": "MONDO:0014135", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014135", "name": "CAV1 primary pulmonary hypertension", "description": "" }, { "id": "MONDO:0014135", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014135", "name": "primary pulmonary hypertension caused by mutation in CAV1", "description": "" }, { "id": "MONDO:0014135", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014135", "name": "pulmonary hypertension, primary, 3", "description": "" }, { "id": "MONDO:0014135", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014135", "name": "pulmonary hypertension, primary, type 3", "description": "" }, { "id": "MONDO:0014135", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014135", "name": "PPH3", "description": "" }, { "id": "MONDO:0014136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014136", "name": "pulmonary hypertension, primary, 4", "description": "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene." }, { "id": "MONDO:0014136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014136", "name": "KCNK3 primary pulmonary hypertension", "description": "" }, { "id": "MONDO:0014136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014136", "name": "primary pulmonary hypertension caused by mutation in KCNK3", "description": "" }, { "id": "MONDO:0014136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014136", "name": "pulmonary hypertension, primary, 4", "description": "" }, { "id": "MONDO:0014136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014136", "name": "pulmonary hypertension, primary, type 4", "description": "" }, { "id": "MONDO:0014136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014136", "name": "PPH4", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "pulmonary hypertension, primary, 1", "description": "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene." }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "BMPR2 primary pulmonary hypertension", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "primary pulmonary hypertension caused by mutation in BMPR2", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "pulmonary hypertension, familial primary, 1, with or without HHT", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "pulmonary hypertension, primary, 1", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "PHT", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "PPH1", "description": "" }, { "id": "MIM:265400", "resource": "MIM", "url": "https://www.omim.org/entry/265400", "name": "Pulmonary hypertension, primary, 5", "description": "Pulmonary hypertension, primary, 5" }, { "id": "MIM:615342", "resource": "MIM", "url": "https://www.omim.org/entry/615342", "name": "Pulmonary hypertension, primary, 2", "description": "Pulmonary hypertension, primary, 2" }, { "id": "MIM:615343", "resource": "MIM", "url": "https://www.omim.org/entry/615343", "name": "Pulmonary hypertension, primary, 3", "description": "Pulmonary hypertension, primary, 3" }, { "id": "MIM:615344", "resource": "MIM", "url": "https://www.omim.org/entry/615344", "name": "Pulmonary hypertension, primary, 4", "description": "Pulmonary hypertension, primary, 4" }, { "id": "MIM:178600", "resource": "MIM", "url": "https://www.omim.org/entry/178600", "name": "Pulmonary hypertension, primary, 1", "description": "Pulmonary hypertension, primary, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "14557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14557" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "O14649-1.336.336", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O14649-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O14649-1.344.344", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O14649-1.343.343", "start_pos": 343, "end_pos": 343, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O14649", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O14649", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "YSIPMIIPRDLSTSDTCVEQ", "down_seq": "HSSPGGGGRYSDTPSRRCLC", "snv": [ { "evidence": [ { "id": "O14649", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O14649" } ], "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 (SHS->NHS).", "chr_id": "2", "chr_pos": "26728411", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S343", "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": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "O14649-1.336.336", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O14649-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O14649-1.344.344", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O14649-1.344.344", "start_pos": 344, "end_pos": 344, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1480014288", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1480014288", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1480014288", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1480014288", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "SIPMIIPRDLSTSDTCVEQS", "down_seq": "SSPGGGGRYSDTPSRRCLCS", "snv": [ { "evidence": [ { "id": "rs1480014288", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1480014288" }, { "id": "rs1480014288", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1480014288" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HSS->NSS).", "chr_id": "2", "chr_pos": "26728413", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H344", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "O14649-1.336.336", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O14649-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O14649-1.343.343", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O14649-1.380.380", "start_pos": 380, "end_pos": 380, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1211206106", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211206106", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1211206106", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1211206106#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1211206106", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1211206106", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RCLCSGAPRSAISSVSTGLH", "down_seq": "LSTFRGLMKRRSSV", "snv": [ { "evidence": [ { "id": "rs1211206106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211206106" }, { "id": "rs1211206106", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1211206106#frequency_tab" }, { "id": "rs1211206106", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1211206106" } ], "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 (SLS->NLS).", "chr_id": "2", "chr_pos": "26728522", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S380", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "O14649-1.393.393", "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": "O14649-1.81.81", "start_pos": 81, "end_pos": 81, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O14649", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O14649", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "ELERVVLRLKPHKAGVQWRF", "down_seq": "GSFYFAITVITTIGYGHAAP", "snv": [ { "evidence": [ { "id": "O14649", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O14649" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "A", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "2", "chr_pos": "26693117", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "A81", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "upstream", "id": "O14649-1.98.98", "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": "O14649-1.336.336", "start_pos": 336, "end_pos": 336, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "TASK1 (K(2P)3.1) K(+) channel inhibition by endothelin-1 is mediated through Rho kinase-dependent phosphorylation.", "journal": "British journal of pharmacology", "date": "2012", "authors": "Seyler C, Duthil-Straub E, Zitron E, Gierten J, Scholz EP, Fink RH, Karle CA, Becker R, Katus HA, Thomas D", "evidence": [ { "database": "iPTMnet", "id": "O14649", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14649" } ], "reference": [ { "type": "PubMed", "id": "21838752", "url": "https://glygen.org/publication/PubMed/21838752" } ] } ], "crossref": [ { "id": "O14649", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14649", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "21838752", "url": "https://glygen.org/publication/PubMed/21838752", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KSREKLQYSIPMIIPRDLST", "down_seq": "DTCVEQSHSSPGGGGRYSDT", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q13464-1", "kinase_gene_name": "ROCK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14649", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14649" }, { "database": "PubMed", "id": "21838752", "url": "https://glygen.org/publication/PubMed/21838752" } ], "site_lbl": "Ser336" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "O14649-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O14649-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O14649-1.344.344", "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": "O14649-1.393.393", "start_pos": 393, "end_pos": 393, "uniprot_canonical_ac": "O14649-1", "length": 394, "uniprot_id": "KCNK3_HUMAN", "protein_name": "Potassium channel subfamily K member 3", "refseq_ac": "NP_002237", "refseq_name": "potassium channel subfamily K member 3", "gene_name": "KCNK3", "gene_names_uniprotkb": "KCNK3; TASK1; TASK", "gene_names_refseq": "DDSA; K2p3.1; KCNK3; OAT1; PPH4; TASK-1; TASK1; TASK; TBAK1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprotkb/O14649" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Protein kinase A is central for forward transport of two-pore domain potassium channels K2P3.1 and K2P9.1.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Mant A, Elliott D, Eyers PA, O'Kelly IM", "evidence": [ { "database": "iPTMnet", "id": "O14649", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14649" } ], "reference": [ { "type": "PubMed", "id": "21357689", "url": "https://glygen.org/publication/PubMed/21357689" } ] }, { "title": "TASK1 (K(2P)3.1) K(+) channel inhibition by endothelin-1 is mediated through Rho kinase-dependent phosphorylation.", "journal": "British journal of pharmacology", "date": "2012", "authors": "Seyler C, Duthil-Straub E, Zitron E, Gierten J, Scholz EP, Fink RH, Karle CA, Becker R, Katus HA, Thomas D", "evidence": [ { "database": "iPTMnet", "id": "O14649", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14649" } ], "reference": [ { "type": "PubMed", "id": "21838752", "url": "https://glygen.org/publication/PubMed/21838752" } ] } ], "crossref": [ { "id": "O14649", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14649", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "21357689", "url": "https://glygen.org/publication/PubMed/21357689", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21838752", "url": "https://glygen.org/publication/PubMed/21838752", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SVSTGLHSLSTFRGLMKRRS", "down_seq": "", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P17612-1", "kinase_gene_name": "PRKACA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14649", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14649" }, { "database": "PubMed", "id": "21357689", "url": "https://glygen.org/publication/PubMed/21357689" } ], "site_lbl": "Ser393" }, { "kinase_uniprot_canonical_ac": "P51812-1", "kinase_gene_name": "RPS6KA3", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14649", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14649" }, { "database": "PubMed", "id": "21357689", "url": "https://glygen.org/publication/PubMed/21357689" } ], "site_lbl": "Ser393" }, { "kinase_uniprot_canonical_ac": "Q13464-1", "kinase_gene_name": "ROCK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14649", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14649" }, { "database": "PubMed", "id": "21838752", "url": "https://glygen.org/publication/PubMed/21838752" } ], "site_lbl": "Ser393" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "53", "end_pos": "53" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "81", "end_pos": "81" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "393", "end_pos": "393" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "O14649-1.380.380", "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": 3 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O95279-1.77.77", "start_pos": 77, "end_pos": 77, "uniprot_canonical_ac": "O95279-1", "length": 499, "uniprot_id": "KCNK5_HUMAN", "protein_name": "Potassium channel subfamily K member 5", "refseq_ac": "NP_003731", "refseq_name": "potassium channel subfamily K member 5", "gene_name": "KCNK5", "gene_names_uniprotkb": "KCNK5; TASK2", "gene_names_refseq": "K2p5.1; KCNK5b; KCNK5; TASK-2; TASK2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs1771023558", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1771023558", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1771023558", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1771023558#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LDKILEVVSDAAGQGVAITG", "down_seq": "QTFNNWNWPNAMIFAATVIT", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn77", "evidence": [ { "id": "O95279", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O95279#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs1771023558", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1771023558" }, { "id": "rs1771023558", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1771023558#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NQT->SQT).", "chr_id": "6", "chr_pos": "39195944", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N77", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "86", "end_pos": "86" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "371", "end_pos": "371" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "O95279-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O95279-1.86.86", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O95279-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "O95279-1", "length": 499, "uniprot_id": "KCNK5_HUMAN", "protein_name": "Potassium channel subfamily K member 5", "refseq_ac": "NP_003731", "refseq_name": "potassium channel subfamily K member 5", "gene_name": "KCNK5", "gene_names_uniprotkb": "KCNK5; TASK2", "gene_names_refseq": "K2p5.1; KCNK5b; KCNK5; TASK-2; TASK2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279" } ], "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": "O95279", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95279" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "crossref": [ { "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O95279", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95279", "database": "O-GlcNAc Database", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "O95279", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95279" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "86", "end_pos": "86" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "371", "end_pos": "371" } ] } ], "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": "O95279-1.203.203", "start_pos": 203, "end_pos": 203, "uniprot_canonical_ac": "O95279-1", "length": 499, "uniprot_id": "KCNK5_HUMAN", "protein_name": "Potassium channel subfamily K member 5", "refseq_ac": "NP_003731", "refseq_name": "potassium channel subfamily K member 5", "gene_name": "KCNK5", "gene_names_uniprotkb": "KCNK5; TASK2", "gene_names_refseq": "K2p5.1; KCNK5b; KCNK5; TASK-2; TASK2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A Non-canonical Voltage-Sensing Mechanism Controls Gating in K2P K(+) Channels.", "journal": "Cell", "date": "2016-02-25", "authors": "Schewe Marcus, Nematian-Ardestani Ehsan, Sun Han, Musinszki Marianne, Cordeiro S\u00f6nke, Bucci Giovanna, de Groot Bert L, Tucker Stephen J, Rapedius Markus, Baukrowitz Thomas", "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279" } ], "reference": [ { "type": "PubMed", "id": "26919430", "url": "https://glygen.org/publication/PubMed/26919430" } ] } ], "crossref": [ { "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "26919430", "url": "https://glygen.org/publication/PubMed/26919430", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "MVTEGWNYIEGLYYSFITIS", "down_seq": "IGFGDFVAGVNPSANYHALY", "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "C", "comment": "Abolishes voltage-dependent gating. Conducts instantaneous currents with linear current-voltage relationship.", "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279" }, { "database": "PubMed", "id": "26919430", "url": "https://glygen.org/publication/PubMed/26919430" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "86", "end_pos": "86" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "371", "end_pos": "371" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "O95279-1.191.191", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O95279-1.212.212", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O95279-1.215.215", "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": "O95279-1.98.98", "start_pos": 98, "end_pos": 98, "uniprot_canonical_ac": "O95279-1", "length": 499, "uniprot_id": "KCNK5_HUMAN", "protein_name": "Potassium channel subfamily K member 5", "refseq_ac": "NP_003731", "refseq_name": "potassium channel subfamily K member 5", "gene_name": "KCNK5", "gene_names_uniprotkb": "KCNK5; TASK2", "gene_names_refseq": "K2p5.1; KCNK5b; KCNK5; TASK-2; TASK2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A Non-canonical Voltage-Sensing Mechanism Controls Gating in K2P K(+) Channels.", "journal": "Cell", "date": "2016-02-25", "authors": "Schewe Marcus, Nematian-Ardestani Ehsan, Sun Han, Musinszki Marianne, Cordeiro S\u00f6nke, Bucci Giovanna, de Groot Bert L, Tucker Stephen J, Rapedius Markus, Baukrowitz Thomas", "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279" } ], "reference": [ { "type": "PubMed", "id": "26919430", "url": "https://glygen.org/publication/PubMed/26919430" } ] } ], "crossref": [ { "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "26919430", "url": "https://glygen.org/publication/PubMed/26919430", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "QTFNNWNWPNAMIFAATVIT", "down_seq": "IGYGNVAPKTPAGRLFCVFY", "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "C", "comment": "Abolishes voltage-dependent gating. Conducts instantaneous currents with linear current-voltage relationship.", "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279" }, { "database": "PubMed", "id": "26919430", "url": "https://glygen.org/publication/PubMed/26919430" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "86", "end_pos": "86" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "371", "end_pos": "371" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O95279-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O95279-1.86.86", "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": "O95279-1.168.168", "start_pos": 168, "end_pos": 168, "uniprot_canonical_ac": "O95279-1", "length": 499, "uniprot_id": "KCNK5_HUMAN", "protein_name": "Potassium channel subfamily K member 5", "refseq_ac": "NP_003731", "refseq_name": "potassium channel subfamily K member 5", "gene_name": "KCNK5", "gene_names_uniprotkb": "KCNK5; TASK2", "gene_names_refseq": "K2p5.1; KCNK5b; KCNK5; TASK-2; TASK2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O95279", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95279", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "LTKRGVSLRKAQITCTVIFI", "down_seq": "WGVLVHLVIPPFVFMVTEGW", "snv": [ { "evidence": [ { "id": "O95279", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95279" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "V", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "6", "chr_pos": "39194301", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V168", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "86", "end_pos": "86" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "371", "end_pos": "371" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_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": "O95279-1.191.191", "start_pos": 191, "end_pos": 191, "uniprot_canonical_ac": "O95279-1", "length": 499, "uniprot_id": "KCNK5_HUMAN", "protein_name": "Potassium channel subfamily K member 5", "refseq_ac": "NP_003731", "refseq_name": "potassium channel subfamily K member 5", "gene_name": "KCNK5", "gene_names_uniprotkb": "KCNK5; TASK2", "gene_names_refseq": "K2p5.1; KCNK5b; KCNK5; TASK-2; TASK2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O95279", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95279", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "VLVHLVIPPFVFMVTEGWNY", "down_seq": "EGLYYSFITISTIGFGDFVA", "snv": [ { "evidence": [ { "id": "O95279", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95279" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "I", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NYI->NYT).", "chr_id": "6", "chr_pos": "39194231", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "I191", "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": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "86", "end_pos": "86" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "371", "end_pos": "371" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "O95279-1.203.203", "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": "O95279-1.212.212", "start_pos": 212, "end_pos": 212, "uniprot_canonical_ac": "O95279-1", "length": 499, "uniprot_id": "KCNK5_HUMAN", "protein_name": "Potassium channel subfamily K member 5", "refseq_ac": "NP_003731", "refseq_name": "potassium channel subfamily K member 5", "gene_name": "KCNK5", "gene_names_uniprotkb": "KCNK5; TASK2", "gene_names_refseq": "K2p5.1; KCNK5b; KCNK5; TASK-2; TASK2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O95279", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95279", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "EGLYYSFITISTIGFGDFVA", "down_seq": "VNPSANYHALYRYFVELWIY", "snv": [ { "evidence": [ { "id": "O95279", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95279" } ], "glycoeffect": [], "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "39194169", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G212", "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:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-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": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "86", "end_pos": "86" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "371", "end_pos": "371" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "O95279-1.203.203", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O95279-1.215.215", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O95279-1.215.215", "start_pos": 215, "end_pos": 215, "uniprot_canonical_ac": "O95279-1", "length": 499, "uniprot_id": "KCNK5_HUMAN", "protein_name": "Potassium channel subfamily K member 5", "refseq_ac": "NP_003731", "refseq_name": "potassium channel subfamily K member 5", "gene_name": "KCNK5", "gene_names_uniprotkb": "KCNK5; TASK2", "gene_names_refseq": "K2p5.1; KCNK5b; KCNK5; TASK-2; TASK2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O95279", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95279", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "YYSFITISTIGFGDFVAGVN", "down_seq": "SANYHALYRYFVELWIYLGL", "snv": [ { "evidence": [ { "id": "O95279", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95279" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4484", "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": "6", "chr_pos": "39191746", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P215", "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": "O95279", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95279" } ], "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": "6", "chr_pos": "39191747", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P215", "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": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "86", "end_pos": "86" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "371", "end_pos": "371" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "O95279-1.203.203", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O95279-1.212.212", "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": 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": "O95279-1.261.261", "start_pos": 261, "end_pos": 261, "uniprot_canonical_ac": "O95279-1", "length": 499, "uniprot_id": "KCNK5_HUMAN", "protein_name": "Potassium channel subfamily K member 5", "refseq_ac": "NP_003731", "refseq_name": "potassium channel subfamily K member 5", "gene_name": "KCNK5", "gene_names_uniprotkb": "KCNK5; TASK2", "gene_names_refseq": "K2p5.1; KCNK5b; KCNK5; TASK-2; TASK2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O95279", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95279", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FVNWKVSMFVEVHKAIKKRR", "down_seq": "RRKESFESSPHSRKALQVKG", "snv": [ { "evidence": [ { "id": "O95279", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95279" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "39191609", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R261", "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: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: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": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "86", "end_pos": "86" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "371", "end_pos": "371" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "O95279-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O95279-1.264.264", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O95279-1.263.263", "start_pos": 263, "end_pos": 263, "uniprot_canonical_ac": "O95279-1", "length": 499, "uniprot_id": "KCNK5_HUMAN", "protein_name": "Potassium channel subfamily K member 5", "refseq_ac": "NP_003731", "refseq_name": "potassium channel subfamily K member 5", "gene_name": "KCNK5", "gene_names_uniprotkb": "KCNK5; TASK2", "gene_names_refseq": "K2p5.1; KCNK5b; KCNK5; TASK-2; TASK2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O95279", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95279", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NWKVSMFVEVHKAIKKRRRR", "down_seq": "KESFESSPHSRKALQVKGST", "snv": [ { "evidence": [ { "id": "O95279", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95279" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "6", "chr_pos": "39191603", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R263", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID: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": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "86", "end_pos": "86" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "371", "end_pos": "371" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "O95279-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O95279-1.264.264", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O95279-1.264.264", "start_pos": 264, "end_pos": 264, "uniprot_canonical_ac": "O95279-1", "length": 499, "uniprot_id": "KCNK5_HUMAN", "protein_name": "Potassium channel subfamily K member 5", "refseq_ac": "NP_003731", "refseq_name": "potassium channel subfamily K member 5", "gene_name": "KCNK5", "gene_names_uniprotkb": "KCNK5; TASK2", "gene_names_refseq": "K2p5.1; KCNK5b; KCNK5; TASK-2; TASK2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1319725046", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1319725046", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1319725046", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1319725046#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1319725046", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1319725046", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "WKVSMFVEVHKAIKKRRRRR", "down_seq": "ESFESSPHSRKALQVKGSTA", "snv": [ { "evidence": [ { "id": "rs1319725046", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1319725046" }, { "id": "rs1319725046", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1319725046#frequency_tab" }, { "id": "rs1319725046", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1319725046" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KES->NES).", "chr_id": "6", "chr_pos": "39191598", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K264", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "86", "end_pos": "86" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "371", "end_pos": "371" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "O95279-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O95279-1.263.263", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O95279-1.288.288", "start_pos": 288, "end_pos": 288, "uniprot_canonical_ac": "O95279-1", "length": 499, "uniprot_id": "KCNK5_HUMAN", "protein_name": "Potassium channel subfamily K member 5", "refseq_ac": "NP_003731", "refseq_name": "potassium channel subfamily K member 5", "gene_name": "KCNK5", "gene_names_uniprotkb": "KCNK5; TASK2", "gene_names_refseq": "K2p5.1; KCNK5b; KCNK5; TASK-2; TASK2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O95279", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95279", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "ESSPHSRKALQVKGSTASKD", "down_seq": "NIFSFLSKKEETYNDLIKQI", "snv": [ { "evidence": [ { "id": "O95279", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95279" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "6", "chr_pos": "39191528", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V288", "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: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": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "86", "end_pos": "86" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "371", "end_pos": "371" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "upstream", "id": "O95279-1.303.303", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O95279-1.303.303", "start_pos": 303, "end_pos": 303, "uniprot_canonical_ac": "O95279-1", "length": 499, "uniprot_id": "KCNK5_HUMAN", "protein_name": "Potassium channel subfamily K member 5", "refseq_ac": "NP_003731", "refseq_name": "potassium channel subfamily K member 5", "gene_name": "KCNK5", "gene_names_uniprotkb": "KCNK5; TASK2", "gene_names_refseq": "K2p5.1; KCNK5b; KCNK5; TASK-2; TASK2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O95279", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95279", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "TASKDVNIFSFLSKKEETYN", "down_seq": "LIKQIGKKAMKTSGGGETGP", "snv": [ { "evidence": [ { "id": "O95279", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95279" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "39191483", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D303", "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": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "86", "end_pos": "86" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "371", "end_pos": "371" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "O95279-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O95279-1.321.321", "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": "O95279-1.321.321", "start_pos": 321, "end_pos": 321, "uniprot_canonical_ac": "O95279-1", "length": 499, "uniprot_id": "KCNK5_HUMAN", "protein_name": "Potassium channel subfamily K member 5", "refseq_ac": "NP_003731", "refseq_name": "potassium channel subfamily K member 5", "gene_name": "KCNK5", "gene_names_uniprotkb": "KCNK5; TASK2", "gene_names_refseq": "K2p5.1; KCNK5b; KCNK5; TASK-2; TASK2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O95279", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95279", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "YNDLIKQIGKKAMKTSGGGE", "down_seq": "GPGPGLGPQGGGLPALPPSL", "snv": [ { "evidence": [ { "id": "O95279", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95279" } ], "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": "6", "chr_pos": "39191428", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T321", "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": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "86", "end_pos": "86" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "371", "end_pos": "371" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "O95279-1.303.303", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O95279-1.383.383", "start_pos": 383, "end_pos": 383, "uniprot_canonical_ac": "O95279-1", "length": 499, "uniprot_id": "KCNK5_HUMAN", "protein_name": "Potassium channel subfamily K member 5", "refseq_ac": "NP_003731", "refseq_name": "potassium channel subfamily K member 5", "gene_name": "KCNK5", "gene_names_uniprotkb": "KCNK5; TASK2", "gene_names_refseq": "K2p5.1; KCNK5b; KCNK5; TASK-2; TASK2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs145439765", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145439765", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs145439765", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs145439765", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs145439765", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145439765", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs145439765", "url": "https://www.ncbi.nlm.nih.gov/snp/rs145439765#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs145439765", "url": "http://gnomad.broadinstitute.org/awesome?query=rs145439765", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "RSKGHVSRSPDEEAVARAPE", "down_seq": "SSPAPEVFMNQLDRISEECE", "snv": [ { "evidence": [ { "id": "rs145439765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145439765" }, { "id": "rs145439765", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs145439765" }, { "id": "rs145439765", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145439765" }, { "id": "rs145439765", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs145439765#frequency_tab" }, { "id": "rs145439765", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs145439765" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "6", "chr_pos": "39191243", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000588697", "site_lbl": "D383", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "86", "end_pos": "86" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "371", "end_pos": "371" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "O95279-1.371.371", "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": "O95279-1.38.38", "start_pos": 38, "end_pos": 38, "uniprot_canonical_ac": "O95279-1", "length": 499, "uniprot_id": "KCNK5_HUMAN", "protein_name": "Potassium channel subfamily K member 5", "refseq_ac": "NP_003731", "refseq_name": "potassium channel subfamily K member 5", "gene_name": "KCNK5", "gene_names_uniprotkb": "KCNK5; TASK2", "gene_names_refseq": "K2p5.1; KCNK5b; KCNK5; TASK-2; TASK2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1173669371", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1173669371", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1173669371", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1173669371#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1173669371", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1173669371", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "IGAAIFEVLEEPHWKEAKKN", "down_seq": "YTQKLHLLKEFPCLGQEGLD", "snv": [ { "evidence": [ { "id": "rs1173669371", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1173669371" }, { "id": "rs1173669371", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1173669371#frequency_tab" }, { "id": "rs1173669371", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1173669371" } ], "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 (YYT->NYT).", "chr_id": "6", "chr_pos": "39229000", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y38", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "86", "end_pos": "86" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "371", "end_pos": "371" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "O95279-1.41.41", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O95279-1.407.407", "start_pos": 407, "end_pos": 407, "uniprot_canonical_ac": "O95279-1", "length": 499, "uniprot_id": "KCNK5_HUMAN", "protein_name": "Potassium channel subfamily K member 5", "refseq_ac": "NP_003731", "refseq_name": "potassium channel subfamily K member 5", "gene_name": "KCNK5", "gene_names_uniprotkb": "KCNK5; TASK2", "gene_names_refseq": "K2p5.1; KCNK5b; KCNK5; TASK-2; TASK2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O95279", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95279", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "APEVFMNQLDRISEECEPWD", "down_seq": "QDYHPLIFQDASITFVNTEA", "snv": [ { "evidence": [ { "id": "O95279", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95279" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "6", "chr_pos": "39191171", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A407", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID: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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "86", "end_pos": "86" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "371", "end_pos": "371" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "O95279-1.419.419", "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": "O95279-1.419.419", "start_pos": 419, "end_pos": 419, "uniprot_canonical_ac": "O95279-1", "length": 499, "uniprot_id": "KCNK5_HUMAN", "protein_name": "Potassium channel subfamily K member 5", "refseq_ac": "NP_003731", "refseq_name": "potassium channel subfamily K member 5", "gene_name": "KCNK5", "gene_names_uniprotkb": "KCNK5; TASK2", "gene_names_refseq": "K2p5.1; KCNK5b; KCNK5; TASK-2; TASK2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1770919321", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1770919321", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1770919321", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1770919321#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SEECEPWDAQDYHPLIFQDA", "down_seq": "ITFVNTEAGLSDEETSKSSL", "snv": [ { "evidence": [ { "id": "rs1770919321", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1770919321" }, { "id": "rs1770919321", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1770919321#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 (SIT->NIT).", "chr_id": "6", "chr_pos": "39191134", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S419", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "86", "end_pos": "86" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "371", "end_pos": "371" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "O95279-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O95279-1.428.428", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O95279-1.438.438", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O95279-1.41.41", "start_pos": 41, "end_pos": 41, "uniprot_canonical_ac": "O95279-1", "length": 499, "uniprot_id": "KCNK5_HUMAN", "protein_name": "Potassium channel subfamily K member 5", "refseq_ac": "NP_003731", "refseq_name": "potassium channel subfamily K member 5", "gene_name": "KCNK5", "gene_names_uniprotkb": "KCNK5; TASK2", "gene_names_refseq": "K2p5.1; KCNK5b; KCNK5; TASK-2; TASK2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O95279", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95279", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "AIFEVLEEPHWKEAKKNYYT", "down_seq": "KLHLLKEFPCLGQEGLDKIL", "snv": [ { "evidence": [ { "id": "O95279", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95279" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "39228991", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Q41", "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": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "86", "end_pos": "86" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "371", "end_pos": "371" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "O95279-1.38.38", "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": "O95279-1.428.428", "start_pos": 428, "end_pos": 428, "uniprot_canonical_ac": "O95279-1", "length": 499, "uniprot_id": "KCNK5_HUMAN", "protein_name": "Potassium channel subfamily K member 5", "refseq_ac": "NP_003731", "refseq_name": "potassium channel subfamily K member 5", "gene_name": "KCNK5", "gene_names_uniprotkb": "KCNK5; TASK2", "gene_names_refseq": "K2p5.1; KCNK5b; KCNK5; TASK-2; TASK2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O95279", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95279", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "QDYHPLIFQDASITFVNTEA", "down_seq": "LSDEETSKSSLEDNLAGEES", "snv": [ { "evidence": [ { "id": "O95279", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95279" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "39191108", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G428", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "86", "end_pos": "86" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "371", "end_pos": "371" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "O95279-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O95279-1.438.438", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O95279-1.444.444", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O95279-1.438.438", "start_pos": 438, "end_pos": 438, "uniprot_canonical_ac": "O95279-1", "length": 499, "uniprot_id": "KCNK5_HUMAN", "protein_name": "Potassium channel subfamily K member 5", "refseq_ac": "NP_003731", "refseq_name": "potassium channel subfamily K member 5", "gene_name": "KCNK5", "gene_names_uniprotkb": "KCNK5; TASK2", "gene_names_refseq": "K2p5.1; KCNK5b; KCNK5; TASK-2; TASK2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O95279", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95279", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ASITFVNTEAGLSDEETSKS", "down_seq": "LEDNLAGEESPQQGAEAKAP", "snv": [ { "evidence": [ { "id": "O95279", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95279" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "39191077", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S438", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "86", "end_pos": "86" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "371", "end_pos": "371" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O95279-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O95279-1.428.428", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O95279-1.444.444", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O95279-1.444.444", "start_pos": 444, "end_pos": 444, "uniprot_canonical_ac": "O95279-1", "length": 499, "uniprot_id": "KCNK5_HUMAN", "protein_name": "Potassium channel subfamily K member 5", "refseq_ac": "NP_003731", "refseq_name": "potassium channel subfamily K member 5", "gene_name": "KCNK5", "gene_names_uniprotkb": "KCNK5; TASK2", "gene_names_refseq": "K2p5.1; KCNK5b; KCNK5; TASK-2; TASK2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs151090443", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs151090443", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs151090443", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs151090443", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs151090443", "url": "https://www.ncbi.nlm.nih.gov/snp/rs151090443#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs151090443", "url": "http://gnomad.broadinstitute.org/awesome?query=rs151090443", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "NTEAGLSDEETSKSSLEDNL", "down_seq": "GEESPQQGAEAKAPLNMGEF", "snv": [ { "evidence": [ { "id": "rs151090443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs151090443" }, { "id": "rs151090443", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs151090443" }, { "id": "rs151090443", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs151090443#frequency_tab" }, { "id": "rs151090443", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs151090443" } ], "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": "39191060", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A444", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs151090443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs151090443" }, { "id": "rs151090443", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs151090443" }, { "id": "rs151090443", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs151090443#frequency_tab" }, { "id": "rs151090443", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs151090443" } ], "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": "39191060", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A444", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "86", "end_pos": "86" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "371", "end_pos": "371" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "O95279-1.428.428", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O95279-1.438.438", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O95279-1.462.462", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "O95279-1.462.462", "start_pos": 462, "end_pos": 462, "uniprot_canonical_ac": "O95279-1", "length": 499, "uniprot_id": "KCNK5_HUMAN", "protein_name": "Potassium channel subfamily K member 5", "refseq_ac": "NP_003731", "refseq_name": "potassium channel subfamily K member 5", "gene_name": "KCNK5", "gene_names_uniprotkb": "KCNK5; TASK2", "gene_names_refseq": "K2p5.1; KCNK5b; KCNK5; TASK-2; TASK2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1211290172", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211290172", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1211290172", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1211290172", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "NLAGEESPQQGAEAKAPLNM", "down_seq": "EFPSSSESTFTSTESELSVP", "snv": [ { "evidence": [ { "id": "rs1211290172", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211290172" }, { "id": "rs1211290172", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1211290172" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NMG->NMS).", "chr_id": "6", "chr_pos": "39191006", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G462", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "86", "end_pos": "86" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "371", "end_pos": "371" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "O95279-1.444.444", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O95279-1.79.79", "start_pos": 79, "end_pos": 79, "uniprot_canonical_ac": "O95279-1", "length": 499, "uniprot_id": "KCNK5_HUMAN", "protein_name": "Potassium channel subfamily K member 5", "refseq_ac": "NP_003731", "refseq_name": "potassium channel subfamily K member 5", "gene_name": "KCNK5", "gene_names_uniprotkb": "KCNK5; TASK2", "gene_names_refseq": "K2p5.1; KCNK5b; KCNK5; TASK-2; TASK2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1771023365", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1771023365", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1771023365", "url": "https://www.ensembl.org/id/rs1771023365", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KILEVVSDAAGQGVAITGNQ", "down_seq": "FNNWNWPNAMIFAATVITTI", "snv": [ { "evidence": [ { "id": "rs1771023365", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1771023365" }, { "id": "rs1771023365", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1771023365" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NQT->NQN).", "chr_id": "6", "chr_pos": "39195938", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T79", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "86", "end_pos": "86" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "371", "end_pos": "371" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "O95279-1.77.77", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O95279-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O95279-1.98.98", "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": "O95279-1.86.86", "start_pos": 86, "end_pos": 86, "uniprot_canonical_ac": "O95279-1", "length": 499, "uniprot_id": "KCNK5_HUMAN", "protein_name": "Potassium channel subfamily K member 5", "refseq_ac": "NP_003731", "refseq_name": "potassium channel subfamily K member 5", "gene_name": "KCNK5", "gene_names_uniprotkb": "KCNK5; TASK2", "gene_names_refseq": "K2p5.1; KCNK5b; KCNK5; TASK-2; TASK2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O95279", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95279", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "DAAGQGVAITGNQTFNNWNW", "down_seq": "NAMIFAATVITTIGYGNVAP", "snv": [ { "evidence": [ { "id": "O95279", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95279" } ], "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 (NWP->NWS).", "chr_id": "6", "chr_pos": "39195918", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P86", "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": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "86", "end_pos": "86" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "371", "end_pos": "371" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "O95279-1.77.77", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O95279-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O95279-1.98.98", "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": "O95279-1.371.371", "start_pos": 371, "end_pos": 371, "uniprot_canonical_ac": "O95279-1", "length": 499, "uniprot_id": "KCNK5_HUMAN", "protein_name": "Potassium channel subfamily K member 5", "refseq_ac": "NP_003731", "refseq_name": "potassium channel subfamily K member 5", "gene_name": "KCNK5", "gene_names_uniprotkb": "KCNK5; TASK2", "gene_names_refseq": "K2p5.1; KCNK5b; KCNK5; TASK-2; TASK2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279" }, { "database": "iPTMnet", "id": "O95279", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95279" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] } ], "crossref": [ { "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O95279", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95279", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RVPTLEEVSQTLRSKGHVSR", "down_seq": "PDEEAVARAPEDSSPAPEVF", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprotkb/O95279" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "iPTMnet", "id": "O95279", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95279" } ], "site_lbl": "Ser371" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "86", "end_pos": "86" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "371", "end_pos": "371" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "O95279-1.383.383", "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": "P30085-1.147.147", "start_pos": 147, "end_pos": 147, "uniprot_canonical_ac": "P30085-1", "length": 196, "uniprot_id": "KCY_HUMAN", "protein_name": "UMP-CMP kinase", "refseq_ac": "NP_001129612", "refseq_name": "UMP-CMP kinase isoform b", "gene_name": "CMPK1", "gene_names_uniprotkb": "CMPK1; CMK; CMPK; UCK; UMK; UMPK", "gene_names_refseq": "CK; CMK; CMPK1; CMPK; UMK; UMP-CMPK; UMPK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P30085", "url": "https://www.uniprot.org/uniprotkb/P30085" } ], "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": "P30085", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P30085" }, { "database": "O-GlcNAc Atlas", "id": "P30085", "url": "https://oglcnac.org/atlas/detail/P30085" } ], "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": "P30085", "url": "https://oglcnac.org/atlas/detail/P30085", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P30085", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P30085", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "CIERCLERGKSSGRSDDNRE", "down_seq": "LEKRIQTYLQSTKPIIDLYE", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser147", "evidence": [ { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "P30085", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P30085" } ] } ], "snv": [ { "evidence": [ { "id": "P30085", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P30085" } ], "glycoeffect": [ "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: o-glyco-site-loss (S->F).", "chr_id": "1", "chr_pos": "47373076", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S147", "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": "P30085", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P30085" } ], "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": "1", "chr_pos": "47373076", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S147", "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": "147", "end_pos": "147" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "147", "end_pos": "147" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "33", "end_pos": "33" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "P30085-1.154.154", "categories": [ "glycosylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P30085-1.158.158", "categories": [ "glycosylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P30085-1.159.159", "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": 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": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P30085-1.154.154", "start_pos": 154, "end_pos": 154, "uniprot_canonical_ac": "P30085-1", "length": 196, "uniprot_id": "KCY_HUMAN", "protein_name": "UMP-CMP kinase", "refseq_ac": "NP_001129612", "refseq_name": "UMP-CMP kinase isoform b", "gene_name": "CMPK1", "gene_names_uniprotkb": "CMPK1; CMK; CMPK; UCK; UMK; UMPK", "gene_names_refseq": "CK; CMK; CMPK1; CMPK; UMK; UMP-CMPK; UMPK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P30085", "url": "https://www.uniprot.org/uniprotkb/P30085" } ], "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": "P30085", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P30085" }, { "database": "O-GlcNAc Atlas", "id": "P30085", "url": "https://oglcnac.org/atlas/detail/P30085" } ], "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": "P30085", "url": "https://oglcnac.org/atlas/detail/P30085", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "RGKSSGRSDDNRESLEKRIQ", "down_seq": "YLQSTKPIIDLYEEMGKVKK", "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": "Thr154", "evidence": [ { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "P30085", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P30085" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "147", "end_pos": "147" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "33", "end_pos": "33" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "P30085-1.147.147", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P30085-1.158.158", "categories": [ "glycosylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P30085-1.159.159", "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": "P30085-1.158.158", "start_pos": 158, "end_pos": 158, "uniprot_canonical_ac": "P30085-1", "length": 196, "uniprot_id": "KCY_HUMAN", "protein_name": "UMP-CMP kinase", "refseq_ac": "NP_001129612", "refseq_name": "UMP-CMP kinase isoform b", "gene_name": "CMPK1", "gene_names_uniprotkb": "CMPK1; CMK; CMPK; UCK; UMK; UMPK", "gene_names_refseq": "CK; CMK; CMPK1; CMPK; UMK; UMP-CMPK; UMPK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P30085", "url": "https://www.uniprot.org/uniprotkb/P30085" } ], "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": "P30085", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P30085" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "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": "P30085", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P30085" }, { "database": "O-GlcNAc Atlas", "id": "P30085", "url": "https://oglcnac.org/atlas/detail/P30085" } ], "reference": [ { "type": "PubMed", "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208" } ] }, { "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": "P30085", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P30085" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P30085", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P30085" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "P30085", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P30085" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P30085", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P30085", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P30085", "url": "https://oglcnac.org/atlas/detail/P30085", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SGRSDDNRESLEKRIQTYLQ", "down_seq": "TKPIIDLYEEMGKVKKIDAS", "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": "Ser158", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "P30085", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P30085" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "P30085", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P30085" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "147", "end_pos": "147" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "33", "end_pos": "33" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "P30085-1.147.147", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P30085-1.154.154", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P30085-1.159.159", "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": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P30085-1.159.159", "start_pos": 159, "end_pos": 159, "uniprot_canonical_ac": "P30085-1", "length": 196, "uniprot_id": "KCY_HUMAN", "protein_name": "UMP-CMP kinase", "refseq_ac": "NP_001129612", "refseq_name": "UMP-CMP kinase isoform b", "gene_name": "CMPK1", "gene_names_uniprotkb": "CMPK1; CMK; CMPK; UCK; UMK; UMPK", "gene_names_refseq": "CK; CMK; CMPK1; CMPK; UMK; UMP-CMPK; UMPK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P30085", "url": "https://www.uniprot.org/uniprotkb/P30085" } ], "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": "P30085", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P30085" }, { "database": "O-GlcNAc Atlas", "id": "P30085", "url": "https://oglcnac.org/atlas/detail/P30085" } ], "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": "P30085", "url": "https://oglcnac.org/atlas/detail/P30085", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GRSDDNRESLEKRIQTYLQS", "down_seq": "KPIIDLYEEMGKVKKIDASK", "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": "Thr159", "evidence": [ { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "P30085", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P30085" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "147", "end_pos": "147" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "33", "end_pos": "33" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "P30085-1.147.147", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P30085-1.154.154", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P30085-1.158.158", "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": "P30085-1.180.180", "start_pos": 180, "end_pos": 180, "uniprot_canonical_ac": "P30085-1", "length": 196, "uniprot_id": "KCY_HUMAN", "protein_name": "UMP-CMP kinase", "refseq_ac": "NP_001129612", "refseq_name": "UMP-CMP kinase isoform b", "gene_name": "CMPK1", "gene_names_uniprotkb": "CMPK1; CMK; CMPK; UCK; UMK; UMPK", "gene_names_refseq": "CK; CMK; CMPK1; CMPK; UMK; UMP-CMPK; UMPK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P30085", "url": "https://www.uniprot.org/uniprotkb/P30085" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P30085", "url": "https://www.uniprot.org/uniprotkb/P30085", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KPIIDLYEEMGKVKKIDASK", "down_seq": "VDEVFDEVVQIFDKEG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P30085", "url": "https://www.uniprot.org/uniprotkb/P30085" } ], "site_lbl": "Ser180" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "147", "end_pos": "147" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "33", "end_pos": "33" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P30085-1.33.33", "start_pos": 33, "end_pos": 33, "uniprot_canonical_ac": "P30085-1", "length": 196, "uniprot_id": "KCY_HUMAN", "protein_name": "UMP-CMP kinase", "refseq_ac": "NP_001129612", "refseq_name": "UMP-CMP kinase isoform b", "gene_name": "CMPK1", "gene_names_uniprotkb": "CMPK1; CMK; CMPK; UCK; UMK; UMPK", "gene_names_refseq": "CK; CMK; CMPK1; CMPK; UMK; UMP-CMPK; UMPK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P30085", "url": "https://www.uniprot.org/uniprotkb/P30085" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P30085", "url": "https://www.uniprot.org/uniprotkb/P30085" }, { "database": "iPTMnet", "id": "P30085", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30085" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "P30085", "url": "https://www.uniprot.org/uniprotkb/P30085", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P30085", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30085", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GAGKGTQCARIVEKYGYTHL", "down_seq": "AGELLRDERKNPDSQYGELI", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P30085", "url": "https://www.uniprot.org/uniprotkb/P30085" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P30085", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P30085" } ], "site_lbl": "Ser33" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "147", "end_pos": "147" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "33", "end_pos": "33" } ] } ], "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": "P48050-1.117.117", "start_pos": 117, "end_pos": 117, "uniprot_canonical_ac": "P48050-1", "length": 445, "uniprot_id": "KCNJ4_HUMAN", "protein_name": "Inward rectifier potassium channel 4", "refseq_ac": "NP_004972", "refseq_name": "inward rectifier potassium channel 4", "gene_name": "KCNJ4", "gene_names_uniprotkb": "KCNJ4; IRK3", "gene_names_refseq": "HIRK2; HIR; HRK1; IRK-3; IRK3; KCNJ4; Kir2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P48050", "url": "https://www.uniprot.org/uniprotkb/P48050" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Identification and molecular localization of a pH-sensing domain for the inward rectifier potassium channel HIR.", "journal": "Neuron", "date": "1995", "authors": "Coulter KL, Perier F, Radeke CM, Vandenberg CA", "evidence": [ { "database": "UniProtKB", "id": "P48050", "url": "https://www.uniprot.org/uniprotkb/P48050" } ], "reference": [ { "type": "PubMed", "id": "7576658", "url": "https://glygen.org/publication/PubMed/7576658" } ] } ], "crossref": [ { "id": "P48050", "url": "https://www.uniprot.org/uniprotkb/P48050", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "7576658", "url": "https://glygen.org/publication/PubMed/7576658", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "GGPAAGGGGAAPVAPKPCIM", "down_seq": "VNGFLGAFLFSVETQTTIGY", "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "E", "comment": "Abolishes inwardly rectifying potassium currents and pH-sensitivity.", "evidence": [ { "database": "UniProtKB", "id": "P48050", "url": "https://www.uniprot.org/uniprotkb/P48050" }, { "database": "PubMed", "id": "7576658", "url": "https://glygen.org/publication/PubMed/7576658" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "117", "end_pos": "117" } ] }, { "type": "snv", "site_list": [ { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "443", "end_pos": "443" } ] } ], "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": "P48050-1.162.162", "start_pos": 162, "end_pos": 162, "uniprot_canonical_ac": "P48050-1", "length": 445, "uniprot_id": "KCNJ4_HUMAN", "protein_name": "Inward rectifier potassium channel 4", "refseq_ac": "NP_004972", "refseq_name": "inward rectifier potassium channel 4", "gene_name": "KCNJ4", "gene_names_uniprotkb": "KCNJ4; IRK3", "gene_names_refseq": "HIRK2; HIR; HRK1; IRK-3; IRK3; KCNJ4; Kir2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P48050", "url": "https://www.uniprot.org/uniprotkb/P48050" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P48050", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P48050", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "VTEECPLAVIAVVVQSIVGC", "down_seq": "IDSFMIGTIMAKMARPKKRA", "snv": [ { "evidence": [ { "id": "P48050", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P48050" } ], "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 (3).", "chr_id": "22", "chr_pos": "38427649", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V162", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "117", "end_pos": "117" } ] }, { "type": "snv", "site_list": [ { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "443", "end_pos": "443" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P48050-1.191.191", "start_pos": 191, "end_pos": 191, "uniprot_canonical_ac": "P48050-1", "length": 445, "uniprot_id": "KCNJ4_HUMAN", "protein_name": "Inward rectifier potassium channel 4", "refseq_ac": "NP_004972", "refseq_name": "inward rectifier potassium channel 4", "gene_name": "KCNJ4", "gene_names_uniprotkb": "KCNJ4; IRK3", "gene_names_refseq": "HIRK2; HIR; HRK1; IRK-3; IRK3; KCNJ4; Kir2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P48050", "url": "https://www.uniprot.org/uniprotkb/P48050" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P48050", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P48050", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "IMAKMARPKKRAQTLLFSHH", "down_seq": "VISVRDGKLCLMWRVGNLRK", "snv": [ { "evidence": [ { "id": "P48050", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P48050" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "22", "chr_pos": "38427562", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A191", "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": "mutagenesis", "site_list": [ { "start_pos": "117", "end_pos": "117" } ] }, { "type": "snv", "site_list": [ { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "443", "end_pos": "443" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "P48050-1.194.194", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P48050-1.194.194", "start_pos": 194, "end_pos": 194, "uniprot_canonical_ac": "P48050-1", "length": 445, "uniprot_id": "KCNJ4_HUMAN", "protein_name": "Inward rectifier potassium channel 4", "refseq_ac": "NP_004972", "refseq_name": "inward rectifier potassium channel 4", "gene_name": "KCNJ4", "gene_names_uniprotkb": "KCNJ4; IRK3", "gene_names_refseq": "HIRK2; HIR; HRK1; IRK-3; IRK3; KCNJ4; Kir2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P48050", "url": "https://www.uniprot.org/uniprotkb/P48050" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P48050", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P48050", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KMARPKKRAQTLLFSHHAVI", "down_seq": "VRDGKLCLMWRVGNLRKSHI", "snv": [ { "evidence": [ { "id": "P48050", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P48050" } ], "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 (3).", "chr_id": "22", "chr_pos": "38427552", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S194", "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": "mutagenesis", "site_list": [ { "start_pos": "117", "end_pos": "117" } ] }, { "type": "snv", "site_list": [ { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "443", "end_pos": "443" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "P48050-1.191.191", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P48050-1.20.20", "start_pos": 20, "end_pos": 20, "uniprot_canonical_ac": "P48050-1", "length": 445, "uniprot_id": "KCNJ4_HUMAN", "protein_name": "Inward rectifier potassium channel 4", "refseq_ac": "NP_004972", "refseq_name": "inward rectifier potassium channel 4", "gene_name": "KCNJ4", "gene_names_uniprotkb": "KCNJ4; IRK3", "gene_names_refseq": "HIRK2; HIR; HRK1; IRK-3; IRK3; KCNJ4; Kir2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P48050", "url": "https://www.uniprot.org/uniprotkb/P48050" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P48050", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P48050", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "", "down_seq": "FVKKNGQCNVYFANLSNKSQ", "snv": [ { "evidence": [ { "id": "P48050", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P48050" } ], "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": "22", "chr_pos": "38428074", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R20", "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": "117", "end_pos": "117" } ] }, { "type": "snv", "site_list": [ { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "443", "end_pos": "443" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "P48050-1.26.26", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P48050-1.26.26", "start_pos": 26, "end_pos": 26, "uniprot_canonical_ac": "P48050-1", "length": 445, "uniprot_id": "KCNJ4_HUMAN", "protein_name": "Inward rectifier potassium channel 4", "refseq_ac": "NP_004972", "refseq_name": "inward rectifier potassium channel 4", "gene_name": "KCNJ4", "gene_names_uniprotkb": "KCNJ4; IRK3", "gene_names_refseq": "HIRK2; HIR; HRK1; IRK-3; IRK3; KCNJ4; Kir2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P48050", "url": "https://www.uniprot.org/uniprotkb/P48050" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P48050", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P48050", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "RNGQAHVPRRKRRNRFVKKN", "down_seq": "QCNVYFANLSNKSQRYMADI", "snv": [ { "evidence": [ { "id": "P48050", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P48050" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "22", "chr_pos": "38428057", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G26", "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": "mutagenesis", "site_list": [ { "start_pos": "117", "end_pos": "117" } ] }, { "type": "snv", "site_list": [ { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "443", "end_pos": "443" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "P48050-1.20.20", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P48050-1.351.351", "start_pos": 351, "end_pos": 351, "uniprot_canonical_ac": "P48050-1", "length": 445, "uniprot_id": "KCNJ4_HUMAN", "protein_name": "Inward rectifier potassium channel 4", "refseq_ac": "NP_004972", "refseq_name": "inward rectifier potassium channel 4", "gene_name": "KCNJ4", "gene_names_uniprotkb": "KCNJ4; IRK3", "gene_names_refseq": "HIRK2; HIR; HRK1; IRK-3; IRK3; KCNJ4; Kir2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P48050", "url": "https://www.uniprot.org/uniprotkb/P48050" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P48050", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P48050", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VDYSRFHKTYEVAGTPCCSA", "down_seq": "ELQESKITVLPAPPPPPSAF", "snv": [ { "evidence": [ { "id": "P48050", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P48050" } ], "glycoeffect": [], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "22", "chr_pos": "38427081", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R351", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "117", "end_pos": "117" } ] }, { "type": "snv", "site_list": [ { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "443", "end_pos": "443" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P48050-1.393.393", "start_pos": 393, "end_pos": 393, "uniprot_canonical_ac": "P48050-1", "length": 445, "uniprot_id": "KCNJ4_HUMAN", "protein_name": "Inward rectifier potassium channel 4", "refseq_ac": "NP_004972", "refseq_name": "inward rectifier potassium channel 4", "gene_name": "KCNJ4", "gene_names_uniprotkb": "KCNJ4; IRK3", "gene_names_refseq": "HIRK2; HIR; HRK1; IRK-3; IRK3; KCNJ4; Kir2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P48050", "url": "https://www.uniprot.org/uniprotkb/P48050" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P48050", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P48050", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "YENELALMSQEEEEMEEEAA", "down_seq": "AAAVAAGLGLEAGSKEEAGI", "snv": [ { "evidence": [ { "id": "P48050", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P48050" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "22", "chr_pos": "38426955", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A393", "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: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": "117", "end_pos": "117" } ] }, { "type": "snv", "site_list": [ { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "443", "end_pos": "443" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P48050-1.95.95", "start_pos": 95, "end_pos": 95, "uniprot_canonical_ac": "P48050-1", "length": 445, "uniprot_id": "KCNJ4_HUMAN", "protein_name": "Inward rectifier potassium channel 4", "refseq_ac": "NP_004972", "refseq_name": "inward rectifier potassium channel 4", "gene_name": "KCNJ4", "gene_names_uniprotkb": "KCNJ4; IRK3", "gene_names_refseq": "HIRK2; HIR; HRK1; IRK-3; IRK3; KCNJ4; Kir2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P48050", "url": "https://www.uniprot.org/uniprotkb/P48050" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P48050", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P48050", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "LLFWCIAFFHGDLEASPGVP", "down_seq": "AGGPAAGGGGAAPVAPKPCI", "snv": [ { "evidence": [ { "id": "P48050", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P48050" } ], "glycoeffect": [], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "22", "chr_pos": "38427849", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A95", "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:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "117", "end_pos": "117" } ] }, { "type": "snv", "site_list": [ { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "443", "end_pos": "443" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P48050-1.443.443", "start_pos": 443, "end_pos": 443, "uniprot_canonical_ac": "P48050-1", "length": 445, "uniprot_id": "KCNJ4_HUMAN", "protein_name": "Inward rectifier potassium channel 4", "refseq_ac": "NP_004972", "refseq_name": "inward rectifier potassium channel 4", "gene_name": "KCNJ4", "gene_names_uniprotkb": "KCNJ4; IRK3", "gene_names_refseq": "HIRK2; HIR; HRK1; IRK-3; IRK3; KCNJ4; Kir2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P48050", "url": "https://www.uniprot.org/uniprotkb/P48050" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Molecular mechanism of inward rectifier potassium channel 2.3 regulation by tax-interacting protein-1.", "journal": "J. Mol. Biol.", "date": "2009", "authors": "Yan X, Zhou H, Zhang J, Shi C, Xie X, Wu Y, Tian C, Shen Y, Long J", "evidence": [ { "database": "UniProtKB", "id": "P48050", "url": "https://www.uniprot.org/uniprotkb/P48050" }, { "database": "iPTMnet", "id": "P48050", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48050" } ], "reference": [ { "type": "PubMed", "id": "19635485", "url": "https://glygen.org/publication/PubMed/19635485" } ] } ], "crossref": [ { "id": "P48050", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48050", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19635485", "url": "https://glygen.org/publication/PubMed/19635485", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LDLERMQASLPLDNISYRRE", "down_seq": "AI", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P17612-1", "kinase_gene_name": "PRKACA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P48050", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48050" }, { "database": "PubMed", "id": "19635485", "url": "https://glygen.org/publication/PubMed/19635485" } ], "site_lbl": "Ser443" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P48050", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48050" }, { "database": "PubMed", "id": "19635485", "url": "https://glygen.org/publication/PubMed/19635485" } ], "site_lbl": "Ser443" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "117", "end_pos": "117" } ] }, { "type": "snv", "site_list": [ { "start_pos": "162", "end_pos": "162" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "443", "end_pos": "443" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P48544-1.132.132", "start_pos": 132, "end_pos": 132, "uniprot_canonical_ac": "P48544-1", "length": 419, "uniprot_id": "KCNJ5_HUMAN", "protein_name": "G protein-activated inward rectifier potassium channel 4", "refseq_ac": "NP_000881", "refseq_name": "G protein-activated inward rectifier potassium channel 4", "gene_name": "KCNJ5", "gene_names_uniprotkb": "KCNJ5; GIRK4", "gene_names_refseq": "CIR; GIRK4; KATP1; KCNJ5; KIR3.4; LQT13", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P48544", "url": "https://www.uniprot.org/uniprotkb/P48544" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Glycosylation of GIRK1 at Asn119 and ROMK1 at Asn117 has different consequences in potassium channel function.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Pabon A, Chan KW, Sui JL, Wu X, Logothetis DE, Thornhill WB", "evidence": [ { "database": "GlyGen", "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481" } ], "reference": [ { "type": "PubMed", "id": "10889209", "url": "https://glygen.org/publication/PubMed/10889209" } ] } ], "crossref": [ { "id": "10889209", "url": "https://glygen.org/publication/PubMed/10889209", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "AYIRGDLDHVGDQEWIPCVE", "down_seq": "LSGFVSAFLFSIETETTIGY", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "automatic_literature_mining", "site_category_dict": { "automatic_literature_mining": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn132", "evidence": [ { "id": "10889209", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/10889209" }, { "id": "GLY_000481", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000481" } ], "mining_tool": "RLIMS-G_1.0", "mining_tool_list": [ { "label": "RLIMS-G_1.0" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "upstream", "id": "P48544-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P48544-1.147.147", "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": 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", "mining_tool" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "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", "mining_tool" ] }, { "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": "P48544-1.146.146", "start_pos": 146, "end_pos": 146, "uniprot_canonical_ac": "P48544-1", "length": 419, "uniprot_id": "KCNJ5_HUMAN", "protein_name": "G protein-activated inward rectifier potassium channel 4", "refseq_ac": "NP_000881", "refseq_name": "G protein-activated inward rectifier potassium channel 4", "gene_name": "KCNJ5", "gene_names_uniprotkb": "KCNJ5; GIRK4", "gene_names_refseq": "CIR; GIRK4; KATP1; KCNJ5; KIR3.4; LQT13", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P48544", "url": "https://www.uniprot.org/uniprotkb/P48544" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1184251061", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1184251061", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1184251061", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1184251061#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1184251061", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1184251061", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1184251061", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1184251061", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "WIPCVENLSGFVSAFLFSIE", "down_seq": "ETTIGYGFRVITEKCPEGII", "snv": [ { "evidence": [ { "id": "rs1184251061", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1184251061" }, { "id": "rs1184251061", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1184251061#frequency_tab" }, { "id": "rs1184251061", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1184251061" }, { "id": "rs1184251061", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1184251061" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (TET->NET).", "chr_id": "11", "chr_pos": "128911710", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T146", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "P48544-1.132.132", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P48544-1.147.147", "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": "P48544-1.147.147", "start_pos": 147, "end_pos": 147, "uniprot_canonical_ac": "P48544-1", "length": 419, "uniprot_id": "KCNJ5_HUMAN", "protein_name": "G protein-activated inward rectifier potassium channel 4", "refseq_ac": "NP_000881", "refseq_name": "G protein-activated inward rectifier potassium channel 4", "gene_name": "KCNJ5", "gene_names_uniprotkb": "KCNJ5; GIRK4", "gene_names_refseq": "CIR; GIRK4; KATP1; KCNJ5; KIR3.4; LQT13", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P48544", "url": "https://www.uniprot.org/uniprotkb/P48544" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P48544", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P48544", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "IPCVENLSGFVSAFLFSIET", "down_seq": "TTIGYGFRVITEKCPEGIIL", "snv": [ { "evidence": [ { "id": "P48544", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P48544" } ], "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 (5).", "chr_id": "11", "chr_pos": "128911712", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E147", "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" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "P48544-1.132.132", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P48544-1.146.146", "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": "P48544-1.197.197", "start_pos": 197, "end_pos": 197, "uniprot_canonical_ac": "P48544-1", "length": 419, "uniprot_id": "KCNJ5_HUMAN", "protein_name": "G protein-activated inward rectifier potassium channel 4", "refseq_ac": "NP_000881", "refseq_name": "G protein-activated inward rectifier potassium channel 4", "gene_name": "KCNJ5", "gene_names_uniprotkb": "KCNJ5; GIRK4", "gene_names_refseq": "CIR; GIRK4; KATP1; KCNJ5; KIR3.4; LQT13", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P48544", "url": "https://www.uniprot.org/uniprotkb/P48544" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P48544", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P48544", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "IVNAFMVGCMFVKISQPKKR", "down_seq": "ETLMFSNNAVISMRDEKLCL", "snv": [ { "evidence": [ { "id": "P48544", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P48544" } ], "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": "11", "chr_pos": "128911862", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A197", "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": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "P48544-1.206.206", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P48544-1.206.206", "start_pos": 206, "end_pos": 206, "uniprot_canonical_ac": "P48544-1", "length": 419, "uniprot_id": "KCNJ5_HUMAN", "protein_name": "G protein-activated inward rectifier potassium channel 4", "refseq_ac": "NP_000881", "refseq_name": "G protein-activated inward rectifier potassium channel 4", "gene_name": "KCNJ5", "gene_names_uniprotkb": "KCNJ5; GIRK4", "gene_names_refseq": "CIR; GIRK4; KATP1; KCNJ5; KIR3.4; LQT13", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P48544", "url": "https://www.uniprot.org/uniprotkb/P48544" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P48544", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P48544", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs750424299", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750424299", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs750424299", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750424299", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs750424299", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750424299#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs750424299", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750424299", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs750424299", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs750424299", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "MFVKISQPKKRAETLMFSNN", "down_seq": "VISMRDEKLCLMFRVGDLRN", "snv": [ { "evidence": [ { "id": "P48544", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P48544" }, { "id": "rs750424299", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750424299" }, { "id": "rs750424299", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750424299" }, { "id": "rs750424299", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750424299#frequency_tab" }, { "id": "rs750424299", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750424299" }, { "id": "rs750424299", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs750424299" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NNA->NNT).", "chr_id": "11", "chr_pos": "128911889", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A206", "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", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "P48544-1.197.197", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P48544-1.38.38", "start_pos": 38, "end_pos": 38, "uniprot_canonical_ac": "P48544-1", "length": 419, "uniprot_id": "KCNJ5_HUMAN", "protein_name": "G protein-activated inward rectifier potassium channel 4", "refseq_ac": "NP_000881", "refseq_name": "G protein-activated inward rectifier potassium channel 4", "gene_name": "KCNJ5", "gene_names_uniprotkb": "KCNJ5; GIRK4", "gene_names_refseq": "CIR; GIRK4; KATP1; KCNJ5; KIR3.4; LQT13", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P48544", "url": "https://www.uniprot.org/uniprotkb/P48544" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2135998525", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2135998525", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2135998525", "url": "https://www.ensembl.org/id/rs2135998525", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs2135998525", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2135998525", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "TPWDPKKIPKQARDYVPIAT", "down_seq": "RTRLLAEGKKPRQRYMEKSG", "snv": [ { "evidence": [ { "id": "rs2135998525", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2135998525" }, { "id": "rs2135998525", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2135998525" }, { "id": "rs2135998525", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2135998525" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DRT->NRT).", "chr_id": "11", "chr_pos": "128911385", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D38", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P48544-1.62.62", "start_pos": 62, "end_pos": 62, "uniprot_canonical_ac": "P48544-1", "length": 419, "uniprot_id": "KCNJ5_HUMAN", "protein_name": "G protein-activated inward rectifier potassium channel 4", "refseq_ac": "NP_000881", "refseq_name": "G protein-activated inward rectifier potassium channel 4", "gene_name": "KCNJ5", "gene_names_uniprotkb": "KCNJ5; GIRK4", "gene_names_refseq": "CIR; GIRK4; KATP1; KCNJ5; KIR3.4; LQT13", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P48544", "url": "https://www.uniprot.org/uniprotkb/P48544" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P48544", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P48544", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "LLAEGKKPRQRYMEKSGKCN", "down_seq": "HHGNVQETYRYLSDLFTTLV", "snv": [ { "evidence": [ { "id": "P48544", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P48544" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "11", "chr_pos": "128911457", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V62", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P48544-1.87.87", "start_pos": 87, "end_pos": 87, "uniprot_canonical_ac": "P48544-1", "length": 419, "uniprot_id": "KCNJ5_HUMAN", "protein_name": "G protein-activated inward rectifier potassium channel 4", "refseq_ac": "NP_000881", "refseq_name": "G protein-activated inward rectifier potassium channel 4", "gene_name": "KCNJ5", "gene_names_uniprotkb": "KCNJ5; GIRK4", "gene_names_refseq": "CIR; GIRK4; KATP1; KCNJ5; KIR3.4; LQT13", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P48544", "url": "https://www.uniprot.org/uniprotkb/P48544" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P48544", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P48544", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VQETYRYLSDLFTTLVDLKW", "down_seq": "FNLLVFTMVYTVTWLFFGFI", "snv": [ { "evidence": [ { "id": "P48544", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P48544" } ], "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 (4).", "chr_id": "11", "chr_pos": "128911532", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R87", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID: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": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P48544-1.5.5", "start_pos": 5, "end_pos": 5, "uniprot_canonical_ac": "P48544-1", "length": 419, "uniprot_id": "KCNJ5_HUMAN", "protein_name": "G protein-activated inward rectifier potassium channel 4", "refseq_ac": "NP_000881", "refseq_name": "G protein-activated inward rectifier potassium channel 4", "gene_name": "KCNJ5", "gene_names_uniprotkb": "KCNJ5; GIRK4", "gene_names_refseq": "CIR; GIRK4; KATP1; KCNJ5; KIR3.4; LQT13", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P48544", "url": "https://www.uniprot.org/uniprotkb/P48544" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P48544", "url": "https://www.uniprot.org/uniprotkb/P48544", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MAGD", "down_seq": "RNAMNQDMEIGVTPWDPKKI", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P48544", "url": "https://www.uniprot.org/uniprotkb/P48544" } ], "site_lbl": "Ser5" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P52732-1.899.899", "start_pos": 899, "end_pos": 899, "uniprot_canonical_ac": "P52732-1", "length": 1056, "uniprot_id": "KIF11_HUMAN", "protein_name": "Kinesin-like protein KIF11", "refseq_ac": "NP_004514", "refseq_name": "kinesin-like protein KIF11", "gene_name": "KIF11", "gene_names_uniprotkb": "KIF11; EG5; KNSL1; TRIP5", "gene_names_refseq": "EG5; HKSP; KIF11; KNSL1; MCLMR; TRIP5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" } ], "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": "rs1554863044", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1554863044", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "IFLDQMTIDEDKLIAQNLEL", "down_seq": "ETIKIGLTKLNCFLEQDLKL", "glycosylation": [ { "glytoucan_ac": "G46503DX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LIAQNLELNETIKIGLTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn899", "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": "rs1554863044", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1554863044" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NET->XET).", "chr_id": "10", "chr_pos": "92648361_92648364", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N899", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "899", "end_pos": "899" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "926", "end_pos": "926" } ] }, { "type": "snv", "site_list": [ { "start_pos": "37", "end_pos": "37" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "869", "end_pos": "869" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "901", "end_pos": "901" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1029", "end_pos": "1029" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "923", "end_pos": "923" }, { "start_pos": "925", "end_pos": "925" }, { "start_pos": "926", "end_pos": "926" }, { "start_pos": "931", "end_pos": "931" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "P52732-1.901.901", "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": "P52732-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "P52732-1", "length": 1056, "uniprot_id": "KIF11_HUMAN", "protein_name": "Kinesin-like protein KIF11", "refseq_ac": "NP_004514", "refseq_name": "kinesin-like protein KIF11", "gene_name": "KIF11", "gene_names_uniprotkb": "KIF11; EG5; KNSL1; TRIP5", "gene_names_refseq": "EG5; HKSP; KIF11; KNSL1; MCLMR; TRIP5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Synthesis of Na2S2O4 mediated cleavable affinity tag for labeling of O-GlcNAc modified proteins via azide-alkyne cycloaddition.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2021", "authors": "Wang J, Dou B, Zheng L, Cao W, Zeng X, Wen Y, Ma J, Li X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P52732", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P52732" } ], "reference": [ { "type": "PubMed", "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054" } ] }, { "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": "P52732", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P52732" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Genetic manipulation of OGT enhances NK cell-mediated cytotoxicity in tumor immunity.", "journal": "Journal of advanced research", "date": "2025-09-04", "authors": "Oh Se-Chan, Jeon Bong Chan, Jang In-Hwan, Song Mi-Ran, Hwang Heeyoun, An Dasom, Yue Liu, Jung Yuri, Lee Yunhee, Jo Seona, Park Sung-Kyun, Kim Tae-Don", "evidence": [ { "database": "O-GlcNAc Database", "id": "P52732", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P52732" } ], "reference": [ { "type": "PubMed", "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422" } ] }, { "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": "P52732", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P52732" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "crossref": [ { "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P52732", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P52732", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447", "database": "PubMed", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "P52732", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P52732" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "40914422", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40914422" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "899", "end_pos": "899" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "926", "end_pos": "926" } ] }, { "type": "snv", "site_list": [ { "start_pos": "37", "end_pos": "37" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "869", "end_pos": "869" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "901", "end_pos": "901" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1029", "end_pos": "1029" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "923", "end_pos": "923" }, { "start_pos": "925", "end_pos": "925" }, { "start_pos": "926", "end_pos": "926" }, { "start_pos": "931", "end_pos": "931" } ] } ], "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": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P52732-1.1033.1033", "start_pos": 1033, "end_pos": 1033, "uniprot_canonical_ac": "P52732-1", "length": 1056, "uniprot_id": "KIF11_HUMAN", "protein_name": "Kinesin-like protein KIF11", "refseq_ac": "NP_004514", "refseq_name": "kinesin-like protein KIF11", "gene_name": "KIF11", "gene_names_uniprotkb": "KIF11; EG5; KNSL1; TRIP5", "gene_names_refseq": "EG5; HKSP; KIF11; KNSL1; MCLMR; TRIP5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "The NIMA-family kinase Nek6 phosphorylates the kinesin Eg5 at a novel site necessary for mitotic spindle formation.", "journal": "Journal of cell science", "date": "2008", "authors": "Rapley J, Nicolas M, Groen A, Regue L, Bertran MT, Caelles C, Avruch J, Roig J", "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" }, { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "19001501", "url": "https://glygen.org/publication/PubMed/19001501" } ] }, { "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": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" } ] }, { "title": "NEK7 regulates dendrite morphogenesis in neurons via Eg5-dependent microtubule stabilization.", "journal": "Nature communications", "date": "2018", "authors": "Freixo F, Martinez Delgado P, Manso Y, Sanchez-Huertas C, Lacasa C, Soriano E, Roig J, Luders J", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "29899413", "url": "https://glygen.org/publication/PubMed/29899413" } ] }, { "title": "Phosphorylation of XPD drives its mitotic role independently of its DNA repair and transcription functions.", "journal": "Science advances", "date": "2022", "authors": "Compe E, Pangou E, Le May N, Elly C, Braun C, Hwang JH, Coin F, Sumara I, Choi KW, Egly JM", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "35977011", "url": "https://glygen.org/publication/PubMed/35977011" } ] }, { "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": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" }, { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19001501", "url": "https://glygen.org/publication/PubMed/19001501", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29899413", "url": "https://glygen.org/publication/PubMed/29899413", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35977011", "url": "https://glygen.org/publication/PubMed/35977011", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QHKKSHGKDKENRGINTLER", "down_seq": "KVEETTEHLVTKSRLPLRAQ", "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Still binds to the mitotic spindle but mitotic progression is impaired.", "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" }, { "database": "PubMed", "id": "19001501", "url": "https://glygen.org/publication/PubMed/19001501" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "Still binds to the mitotic spindle but mitotic progression is impaired.", "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" }, { "database": "PubMed", "id": "19001501", "url": "https://glygen.org/publication/PubMed/19001501" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q9HC98-1", "kinase_gene_name": "NEK6", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" }, { "database": "PubMed", "id": "19001501", "url": "https://glygen.org/publication/PubMed/19001501" } ], "site_lbl": "Ser1033" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by NEK6", "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" }, { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" }, { "database": "PubMed", "id": "19001501", "url": "https://glygen.org/publication/PubMed/19001501" }, { "database": "PubMed", "id": "29899413", "url": "https://glygen.org/publication/PubMed/29899413" }, { "database": "PubMed", "id": "35977011", "url": "https://glygen.org/publication/PubMed/35977011" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ], "site_lbl": "Ser1033" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "899", "end_pos": "899" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "926", "end_pos": "926" } ] }, { "type": "snv", "site_list": [ { "start_pos": "37", "end_pos": "37" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "869", "end_pos": "869" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "901", "end_pos": "901" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1029", "end_pos": "1029" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "923", "end_pos": "923" }, { "start_pos": "925", "end_pos": "925" }, { "start_pos": "926", "end_pos": "926" }, { "start_pos": "931", "end_pos": "931" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "P52732-1.1029.1029", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P52732-1.1034.1034", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P52732-1.1034.1034", "start_pos": 1034, "end_pos": 1034, "uniprot_canonical_ac": "P52732-1", "length": 1056, "uniprot_id": "KIF11_HUMAN", "protein_name": "Kinesin-like protein KIF11", "refseq_ac": "NP_004514", "refseq_name": "kinesin-like protein KIF11", "gene_name": "KIF11", "gene_names_uniprotkb": "KIF11; EG5; KNSL1; TRIP5", "gene_names_refseq": "EG5; HKSP; KIF11; KNSL1; MCLMR; TRIP5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "UHRF1 promotes spindle assembly and chromosome congression by catalyzing EG5 polyubiquitination.", "journal": "The Journal of cell biology", "date": "2023-11-06", "authors": "Qi Xuli, Liu Youhong, Peng Yuchong, Fu Yuxin, Fu Yongming, Yin Linglong, Li Xiong", "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" }, { "database": "RefSeq", "id": "NP_004514", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004514" } ], "reference": [ { "type": "PubMed", "id": "37728657", "url": "https://glygen.org/publication/PubMed/37728657" } ] } ], "crossref": [ { "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "37728657", "url": "https://glygen.org/publication/PubMed/37728657", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "HKKSHGKDKENRGINTLERS", "down_seq": "VEETTEHLVTKSRLPLRAQI", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Significantly diminished interaction with TPX2.", "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" }, { "database": "PubMed", "id": "37728657", "url": "https://glygen.org/publication/PubMed/37728657" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "899", "end_pos": "899" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "926", "end_pos": "926" } ] }, { "type": "snv", "site_list": [ { "start_pos": "37", "end_pos": "37" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "869", "end_pos": "869" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "901", "end_pos": "901" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1029", "end_pos": "1029" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "923", "end_pos": "923" }, { "start_pos": "925", "end_pos": "925" }, { "start_pos": "926", "end_pos": "926" }, { "start_pos": "931", "end_pos": "931" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "P52732-1.1029.1029", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P52732-1.1033.1033", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P52732-1.926.926", "start_pos": 926, "end_pos": 926, "uniprot_canonical_ac": "P52732-1", "length": 1056, "uniprot_id": "KIF11_HUMAN", "protein_name": "Kinesin-like protein KIF11", "refseq_ac": "NP_004514", "refseq_name": "kinesin-like protein KIF11", "gene_name": "KIF11", "gene_names_uniprotkb": "KIF11; EG5; KNSL1; TRIP5", "gene_names_refseq": "EG5; HKSP; KIF11; KNSL1; MCLMR; TRIP5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "The NIMA-family kinase Nek6 phosphorylates the kinesin Eg5 at a novel site necessary for mitotic spindle formation.", "journal": "Journal of cell science", "date": "2008", "authors": "Rapley J, Nicolas M, Groen A, Regue L, Bertran MT, Caelles C, Avruch J, Roig J", "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" }, { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "19001501", "url": "https://glygen.org/publication/PubMed/19001501" } ] }, { "title": "Phosphoproteome analysis of the human mitotic spindle.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Nousiainen M, Sillje HH, Sauer G, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "16565220", "url": "https://glygen.org/publication/PubMed/16565220" } ] }, { "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": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" } ] }, { "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": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "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": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "title": "Quantitative analysis of the human spindle phosphoproteome at distinct mitotic stages.", "journal": "Journal of proteome research", "date": "2009", "authors": "Malik R, Lenobel R, Santamaria A, Ries A, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "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": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Phosphorylation by p34cdc2 regulates spindle association of human Eg5, a kinesin-related motor essential for bipolar spindle formation in vivo.", "journal": "Cell", "date": "1995", "authors": "Blangy A, Lane HA, d'Herin P, Harper M, Kress M, Nigg EA", "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" }, { "database": "Reactome", "id": "R-HSA-983189", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983189" }, { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "8548803", "url": "https://glygen.org/publication/PubMed/8548803" } ] }, { "title": "Phosphorylation by p34cdc2 protein kinase regulates binding of the kinesin-related motor HsEg5 to the dynactin subunit p150.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Blangy A, Arnaud L, Nigg EA", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "9235942", "url": "https://glygen.org/publication/PubMed/9235942" } ] }, { "title": "PTEN regulates EG5 to control spindle architecture and chromosome congression during mitosis.", "journal": "Nature communications", "date": "2016", "authors": "He J, Zhang Z, Ouyang M, Yang F, Hao H, Lamb KL, Yang J, Yin Y, Shen WH", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "27492783", "url": "https://glygen.org/publication/PubMed/27492783" } ] }, { "title": "Protein Phosphatase 2A (PP2A) Regulates EG5 to Control Mitotic Progression.", "journal": "Scientific reports", "date": "2017", "authors": "Liu Y, Zhang Z, Liang H, Zhao X, Liang L, Wang G, Yang J, Jin Y, McNutt MA, Yin Y", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "28487562", "url": "https://glygen.org/publication/PubMed/28487562" } ] }, { "title": "HSP70 regulates Eg5 distribution within the mitotic spindle and modulates the cytotoxicity of Eg5 inhibitors.", "journal": "Cell death & disease", "date": "2020-09-01", "authors": "Fang Chieh-Ting, Kuo Hsiao-Hui, Hsu Shao-Chun, Yih Ling-Huei", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "32873777", "url": "https://glygen.org/publication/PubMed/32873777" } ] }, { "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": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" }, { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19001501", "url": "https://glygen.org/publication/PubMed/19001501", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "16565220", "url": "https://glygen.org/publication/PubMed/16565220", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "8548803", "url": "https://glygen.org/publication/PubMed/8548803", "database": "PubMed", "categories": [ "Other" ] }, { "id": "9235942", "url": "https://glygen.org/publication/PubMed/9235942", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P52732", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P52732", "database": "PRO", "categories": [ "Other" ] }, { "id": "27492783", "url": "https://glygen.org/publication/PubMed/27492783", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28487562", "url": "https://glygen.org/publication/PubMed/28487562", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32873777", "url": "https://glygen.org/publication/PubMed/32873777", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LTKLNCFLEQDLKLDIPTGT", "down_seq": "PQRKSYLYPSTLVRTEPREH", "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "No mitotic phosphorylation. No binding to spindle apparatus.", "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" }, { "database": "PubMed", "id": "19001501", "url": "https://glygen.org/publication/PubMed/19001501" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P06493-1", "kinase_gene_name": "CDK1", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" }, { "database": "PubMed", "id": "16565220", "url": "https://glygen.org/publication/PubMed/16565220" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" }, { "database": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "8548803", "url": "https://glygen.org/publication/PubMed/8548803" }, { "database": "PubMed", "id": "9235942", "url": "https://glygen.org/publication/PubMed/9235942" } ], "site_lbl": "Thr926" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine; by CDK1", "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" }, { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" }, { "database": "PubMed", "id": "16565220", "url": "https://glygen.org/publication/PubMed/16565220" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" }, { "database": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "8548803", "url": "https://glygen.org/publication/PubMed/8548803" }, { "database": "PubMed", "id": "9235942", "url": "https://glygen.org/publication/PubMed/9235942" }, { "database": "PRO", "id": "P52732", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P52732" }, { "database": "PubMed", "id": "19001501", "url": "https://glygen.org/publication/PubMed/19001501" }, { "database": "PubMed", "id": "27492783", "url": "https://glygen.org/publication/PubMed/27492783" }, { "database": "PubMed", "id": "28487562", "url": "https://glygen.org/publication/PubMed/28487562" }, { "database": "PubMed", "id": "32873777", "url": "https://glygen.org/publication/PubMed/32873777" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ], "site_lbl": "Thr926" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "899", "end_pos": "899" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "926", "end_pos": "926" } ] }, { "type": "snv", "site_list": [ { "start_pos": "37", "end_pos": "37" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "869", "end_pos": "869" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "901", "end_pos": "901" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1029", "end_pos": "1029" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "923", "end_pos": "923" }, { "start_pos": "925", "end_pos": "925" }, { "start_pos": "926", "end_pos": "926" }, { "start_pos": "931", "end_pos": "931" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "P52732-1.923.923", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P52732-1.925.925", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P52732-1.931.931", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 14 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P52732-1.37.37", "start_pos": 37, "end_pos": 37, "uniprot_canonical_ac": "P52732-1", "length": 1056, "uniprot_id": "KIF11_HUMAN", "protein_name": "Kinesin-like protein KIF11", "refseq_ac": "NP_004514", "refseq_name": "kinesin-like protein KIF11", "gene_name": "KIF11", "gene_names_uniprotkb": "KIF11; EG5; KNSL1; TRIP5", "gene_names_refseq": "EG5; HKSP; KIF11; KNSL1; MCLMR; TRIP5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P52732", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P52732", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "KNIQVVVRCRPFNLAERKAS", "down_seq": "HSIVECDPVRKEVSVRTGGL", "snv": [ { "evidence": [ { "id": "P52732", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P52732" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "10", "chr_pos": "92606296", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A37", "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: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": "899", "end_pos": "899" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "926", "end_pos": "926" } ] }, { "type": "snv", "site_list": [ { "start_pos": "37", "end_pos": "37" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "869", "end_pos": "869" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "901", "end_pos": "901" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1029", "end_pos": "1029" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "923", "end_pos": "923" }, { "start_pos": "925", "end_pos": "925" }, { "start_pos": "926", "end_pos": "926" }, { "start_pos": "931", "end_pos": "931" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P52732-1.445.445", "start_pos": 445, "end_pos": 445, "uniprot_canonical_ac": "P52732-1", "length": 1056, "uniprot_id": "KIF11_HUMAN", "protein_name": "Kinesin-like protein KIF11", "refseq_ac": "NP_004514", "refseq_name": "kinesin-like protein KIF11", "gene_name": "KIF11", "gene_names_uniprotkb": "KIF11; EG5; KNSL1; TRIP5", "gene_names_refseq": "EG5; HKSP; KIF11; KNSL1; MCLMR; TRIP5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P52732", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P52732", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "KIGAVEEELNRVTELFMDNK", "down_seq": "ELDQCKSDLQNKTQELETTQ", "snv": [ { "evidence": [ { "id": "P52732", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P52732" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "N", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NKN->NKT).", "chr_id": "10", "chr_pos": "92630204", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N445", "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": "899", "end_pos": "899" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "926", "end_pos": "926" } ] }, { "type": "snv", "site_list": [ { "start_pos": "37", "end_pos": "37" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "869", "end_pos": "869" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "901", "end_pos": "901" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1029", "end_pos": "1029" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "923", "end_pos": "923" }, { "start_pos": "925", "end_pos": "925" }, { "start_pos": "926", "end_pos": "926" }, { "start_pos": "931", "end_pos": "931" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "P52732-1.448.448", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P52732-1.458.458", "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": "P52732-1.448.448", "start_pos": 448, "end_pos": 448, "uniprot_canonical_ac": "P52732-1", "length": 1056, "uniprot_id": "KIF11_HUMAN", "protein_name": "Kinesin-like protein KIF11", "refseq_ac": "NP_004514", "refseq_name": "kinesin-like protein KIF11", "gene_name": "KIF11", "gene_names_uniprotkb": "KIF11; EG5; KNSL1; TRIP5", "gene_names_refseq": "EG5; HKSP; KIF11; KNSL1; MCLMR; TRIP5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P52732", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P52732", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1844721515", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1844721515", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1844721515", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1844721515", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "AVEEELNRVTELFMDNKNEL", "down_seq": "QCKSDLQNKTQELETTQKHL", "snv": [ { "evidence": [ { "id": "P52732", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P52732" }, { "id": "rs1844721515", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1844721515" }, { "id": "rs1844721515", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1844721515" } ], "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": "92630212", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D448", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "899", "end_pos": "899" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "926", "end_pos": "926" } ] }, { "type": "snv", "site_list": [ { "start_pos": "37", "end_pos": "37" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "869", "end_pos": "869" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "901", "end_pos": "901" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1029", "end_pos": "1029" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "923", "end_pos": "923" }, { "start_pos": "925", "end_pos": "925" }, { "start_pos": "926", "end_pos": "926" }, { "start_pos": "931", "end_pos": "931" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "P52732-1.445.445", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P52732-1.458.458", "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": "P52732-1.545.545", "start_pos": 545, "end_pos": 545, "uniprot_canonical_ac": "P52732-1", "length": 1056, "uniprot_id": "KIF11_HUMAN", "protein_name": "Kinesin-like protein KIF11", "refseq_ac": "NP_004514", "refseq_name": "kinesin-like protein KIF11", "gene_name": "KIF11", "gene_names_uniprotkb": "KIF11; EG5; KNSL1; TRIP5", "gene_names_refseq": "EG5; HKSP; KIF11; KNSL1; MCLMR; TRIP5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1564713037", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1564713037", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1564713037", "url": "https://www.ensembl.org/id/rs1564713037", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "QHNAEAQDIFGKNLNSLFNN", "down_seq": "EELIKDGSSKQKAMLEVHKT", "snv": [ { "evidence": [ { "id": "rs1564713037", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1564713037" }, { "id": "rs1564713037", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1564713037" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NNM->NNT).", "chr_id": "10", "chr_pos": "92632625", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M545", "disease": [ { "disease_id": "DOID:0060349", "recommended_name": { "id": "DOID:0060349", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060349", "name": "microcephaly with or without chorioretinopathy, lymphedema, or mental retardation", "description": "A syndrome characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." }, "synonyms": [ { "id": "DOID:0060349", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060349", "name": "lymphedema, microcephaly and chorioretinopathy syndrome", "description": "" }, { "id": "DOID:0060349", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060349", "name": "lymphedema and retinal folds with ficrocephaly and microphthalmos", "description": "" }, { "id": "DOID:0060349", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060349", "name": "microcephaly lymphedema chorioretinal dysplasia", "description": "" }, { "id": "DOID:0060349", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060349", "name": "chorioretinal dysplasia-microcephaly-mental retardation syndrome", "description": "" }, { "id": "DOID:0060349", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060349", "name": "microcephaly, lymphedema, chorioretinal dysplasia syndrome", "description": "" }, { "id": "MONDO:0007918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007918", "name": "microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability", "description": "A microcephaly caused by a mutation in KIF11 gene and follows autosomal dominant inheritance. It is characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." }, { "id": "MONDO:0007918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007918", "name": "KIF11-associated disorder", "description": "" }, { "id": "MONDO:0007918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007918", "name": "MCLMR", "description": "" }, { "id": "MONDO:0007918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007918", "name": "MLCRD", "description": "" }, { "id": "MONDO:0007918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007918", "name": "MLCRD syndrome", "description": "" }, { "id": "MONDO:0007918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007918", "name": "lymphedema, microcephaly and chorioretinopathy syndrome", "description": "" }, { "id": "MONDO:0007918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007918", "name": "microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability", "description": "" }, { "id": "MONDO:0007918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007918", "name": "microcephaly with or without chorioretinopathy, lymphedema, or mental retardation", "description": "" }, { "id": "MONDO:0007918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007918", "name": "microcephaly, lymphedema, chorioretinal dysplasia syndrome", "description": "" }, { "id": "MONDO:0007918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007918", "name": "KIF11 disease", "description": "" }, { "id": "MONDO:0007918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007918", "name": "microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant", "description": "" }, { "id": "MIM:152950", "resource": "MIM", "url": "https://www.omim.org/entry/152950", "name": "Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development", "description": "Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development" } ], "unlinked_id_list": [], "evidence": [ { "id": "152950", "database": "MIM", "url": "https://www.omim.org/entry/152950" }, { "id": "0060349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060349" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "899", "end_pos": "899" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "926", "end_pos": "926" } ] }, { "type": "snv", "site_list": [ { "start_pos": "37", "end_pos": "37" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "869", "end_pos": "869" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "901", "end_pos": "901" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1029", "end_pos": "1029" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "923", "end_pos": "923" }, { "start_pos": "925", "end_pos": "925" }, { "start_pos": "926", "end_pos": "926" }, { "start_pos": "931", "end_pos": "931" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P52732-1.59.59", "start_pos": 59, "end_pos": 59, "uniprot_canonical_ac": "P52732-1", "length": 1056, "uniprot_id": "KIF11_HUMAN", "protein_name": "Kinesin-like protein KIF11", "refseq_ac": "NP_004514", "refseq_name": "kinesin-like protein KIF11", "gene_name": "KIF11", "gene_names_uniprotkb": "KIF11; EG5; KNSL1; TRIP5", "gene_names_refseq": "EG5; HKSP; KIF11; KNSL1; MCLMR; TRIP5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P52732", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P52732", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SIVECDPVRKEVSVRTGGLA", "down_seq": "KSSRKTYTFDMVFGASTKQI", "snv": [ { "evidence": [ { "id": "P52732", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P52732" } ], "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": "10", "chr_pos": "92606362", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D59", "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": "899", "end_pos": "899" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "926", "end_pos": "926" } ] }, { "type": "snv", "site_list": [ { "start_pos": "37", "end_pos": "37" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "869", "end_pos": "869" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "901", "end_pos": "901" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1029", "end_pos": "1029" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "923", "end_pos": "923" }, { "start_pos": "925", "end_pos": "925" }, { "start_pos": "926", "end_pos": "926" }, { "start_pos": "931", "end_pos": "931" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "P52732-1.62.62", "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": "P52732-1.694.694", "start_pos": 694, "end_pos": 694, "uniprot_canonical_ac": "P52732-1", "length": 1056, "uniprot_id": "KIF11_HUMAN", "protein_name": "Kinesin-like protein KIF11", "refseq_ac": "NP_004514", "refseq_name": "kinesin-like protein KIF11", "gene_name": "KIF11", "gene_names_uniprotkb": "KIF11; EG5; KNSL1; TRIP5", "gene_names_refseq": "EG5; HKSP; KIF11; KNSL1; MCLMR; TRIP5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P52732", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P52732", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "ELDGFLSILCNNLHELQENT", "down_seq": "CSLVESQKQCGNLTEDLKTI", "snv": [ { "evidence": [ { "id": "P52732", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P52732" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NTI->NTT).", "chr_id": "10", "chr_pos": "92637466", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "I694", "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": "899", "end_pos": "899" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "926", "end_pos": "926" } ] }, { "type": "snv", "site_list": [ { "start_pos": "37", "end_pos": "37" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "869", "end_pos": "869" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "901", "end_pos": "901" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1029", "end_pos": "1029" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "923", "end_pos": "923" }, { "start_pos": "925", "end_pos": "925" }, { "start_pos": "926", "end_pos": "926" }, { "start_pos": "931", "end_pos": "931" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "P52732-1.702.702", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P52732-1.702.702", "start_pos": 702, "end_pos": 702, "uniprot_canonical_ac": "P52732-1", "length": 1056, "uniprot_id": "KIF11_HUMAN", "protein_name": "Kinesin-like protein KIF11", "refseq_ac": "NP_004514", "refseq_name": "kinesin-like protein KIF11", "gene_name": "KIF11", "gene_names_uniprotkb": "KIF11; EG5; KNSL1; TRIP5", "gene_names_refseq": "EG5; HKSP; KIF11; KNSL1; MCLMR; TRIP5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs189734472", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs189734472", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs189734472", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs189734472", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs189734472", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs189734472", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs189734472", "url": "https://www.ncbi.nlm.nih.gov/snp/rs189734472#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs189734472", "url": "http://gnomad.broadinstitute.org/awesome?query=rs189734472", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LCNNLHELQENTICSLVESQ", "down_seq": "QCGNLTEDLKTIKQTHSQEL", "snv": [ { "evidence": [ { "id": "rs189734472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs189734472" }, { "id": "rs189734472", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs189734472" }, { "id": "rs189734472", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs189734472" }, { "id": "rs189734472", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs189734472#frequency_tab" }, { "id": "rs189734472", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs189734472" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KQC->NQC).", "chr_id": "10", "chr_pos": "92637491", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000588697", "site_lbl": "K702", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "899", "end_pos": "899" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "926", "end_pos": "926" } ] }, { "type": "snv", "site_list": [ { "start_pos": "37", "end_pos": "37" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "869", "end_pos": "869" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "901", "end_pos": "901" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1029", "end_pos": "1029" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "923", "end_pos": "923" }, { "start_pos": "925", "end_pos": "925" }, { "start_pos": "926", "end_pos": "926" }, { "start_pos": "931", "end_pos": "931" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "P52732-1.694.694", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P52732-1.717.717", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P52732-1.717.717", "start_pos": 717, "end_pos": 717, "uniprot_canonical_ac": "P52732-1", "length": 1056, "uniprot_id": "KIF11_HUMAN", "protein_name": "Kinesin-like protein KIF11", "refseq_ac": "NP_004514", "refseq_name": "kinesin-like protein KIF11", "gene_name": "KIF11", "gene_names_uniprotkb": "KIF11; EG5; KNSL1; TRIP5", "gene_names_refseq": "EG5; HKSP; KIF11; KNSL1; MCLMR; TRIP5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs369741638", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369741638", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs369741638", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369741638", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs369741638", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369741638#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs369741638", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369741638", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LVESQKQCGNLTEDLKTIKQ", "down_seq": "HSQELCKLMNLWTERFCALE", "snv": [ { "evidence": [ { "id": "rs369741638", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369741638" }, { "id": "rs369741638", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369741638" }, { "id": "rs369741638", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369741638#frequency_tab" }, { "id": "rs369741638", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369741638" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (THS->NHS).", "chr_id": "10", "chr_pos": "92637535", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T717", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "899", "end_pos": "899" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "926", "end_pos": "926" } ] }, { "type": "snv", "site_list": [ { "start_pos": "37", "end_pos": "37" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "869", "end_pos": "869" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "901", "end_pos": "901" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1029", "end_pos": "1029" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "923", "end_pos": "923" }, { "start_pos": "925", "end_pos": "925" }, { "start_pos": "926", "end_pos": "926" }, { "start_pos": "931", "end_pos": "931" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "P52732-1.702.702", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P52732-1.825.825", "start_pos": 825, "end_pos": 825, "uniprot_canonical_ac": "P52732-1", "length": 1056, "uniprot_id": "KIF11_HUMAN", "protein_name": "Kinesin-like protein KIF11", "refseq_ac": "NP_004514", "refseq_name": "kinesin-like protein KIF11", "gene_name": "KIF11", "gene_names_uniprotkb": "KIF11; EG5; KNSL1; TRIP5", "gene_names_refseq": "EG5; HKSP; KIF11; KNSL1; MCLMR; TRIP5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P52732", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P52732", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NGNLEKISQETEQRCESLNT", "down_seq": "TVYFSEQWVSSLNEREQELH", "snv": [ { "evidence": [ { "id": "P52732", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P52732" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NTR->NTT).", "chr_id": "10", "chr_pos": "92645569", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "R825", "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": "899", "end_pos": "899" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "926", "end_pos": "926" } ] }, { "type": "snv", "site_list": [ { "start_pos": "37", "end_pos": "37" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "869", "end_pos": "869" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "901", "end_pos": "901" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1029", "end_pos": "1029" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "923", "end_pos": "923" }, { "start_pos": "925", "end_pos": "925" }, { "start_pos": "926", "end_pos": "926" }, { "start_pos": "931", "end_pos": "931" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P52732-1.848.848", "start_pos": 848, "end_pos": 848, "uniprot_canonical_ac": "P52732-1", "length": 1056, "uniprot_id": "KIF11_HUMAN", "protein_name": "Kinesin-like protein KIF11", "refseq_ac": "NP_004514", "refseq_name": "kinesin-like protein KIF11", "gene_name": "KIF11", "gene_names_uniprotkb": "KIF11; EG5; KNSL1; TRIP5", "gene_names_refseq": "EG5; HKSP; KIF11; KNSL1; MCLMR; TRIP5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1211358432", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211358432", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1211358432", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1211358432#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1211358432", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1211358432", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "YFSEQWVSSLNEREQELHNL", "down_seq": "EVVSQCCEASSSDITEKSDG", "snv": [ { "evidence": [ { "id": "rs1211358432", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211358432" }, { "id": "rs1211358432", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1211358432#frequency_tab" }, { "id": "rs1211358432", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1211358432" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLL->NLS).", "chr_id": "10", "chr_pos": "92645638", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L848", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "899", "end_pos": "899" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "926", "end_pos": "926" } ] }, { "type": "snv", "site_list": [ { "start_pos": "37", "end_pos": "37" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "869", "end_pos": "869" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "901", "end_pos": "901" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1029", "end_pos": "1029" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "923", "end_pos": "923" }, { "start_pos": "925", "end_pos": "925" }, { "start_pos": "926", "end_pos": "926" }, { "start_pos": "931", "end_pos": "931" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P52732-1.869.869", "start_pos": 869, "end_pos": 869, "uniprot_canonical_ac": "P52732-1", "length": 1056, "uniprot_id": "KIF11_HUMAN", "protein_name": "Kinesin-like protein KIF11", "refseq_ac": "NP_004514", "refseq_name": "kinesin-like protein KIF11", "gene_name": "KIF11", "gene_names_uniprotkb": "KIF11; EG5; KNSL1; TRIP5", "gene_names_refseq": "EG5; HKSP; KIF11; KNSL1; MCLMR; TRIP5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P52732", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P52732", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "EVVSQCCEASSSDITEKSDG", "down_seq": "KAAHEKQHNIFLDQMTIDED", "snv": [ { "evidence": [ { "id": "P52732", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P52732" } ], "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": "10", "chr_pos": "92648269", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R869", "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": "glycosylation", "site_list": [ { "start_pos": "899", "end_pos": "899" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "926", "end_pos": "926" } ] }, { "type": "snv", "site_list": [ { "start_pos": "37", "end_pos": "37" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "869", "end_pos": "869" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "901", "end_pos": "901" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1029", "end_pos": "1029" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "923", "end_pos": "923" }, { "start_pos": "925", "end_pos": "925" }, { "start_pos": "926", "end_pos": "926" }, { "start_pos": "931", "end_pos": "931" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P52732-1.901.901", "start_pos": 901, "end_pos": 901, "uniprot_canonical_ac": "P52732-1", "length": 1056, "uniprot_id": "KIF11_HUMAN", "protein_name": "Kinesin-like protein KIF11", "refseq_ac": "NP_004514", "refseq_name": "kinesin-like protein KIF11", "gene_name": "KIF11", "gene_names_uniprotkb": "KIF11; EG5; KNSL1; TRIP5", "gene_names_refseq": "EG5; HKSP; KIF11; KNSL1; MCLMR; TRIP5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1844943796", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1844943796", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1844943796", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1844943796#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LDQMTIDEDKLIAQNLELNE", "down_seq": "IKIGLTKLNCFLEQDLKLDI", "snv": [ { "evidence": [ { "id": "rs1844943796", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1844943796" }, { "id": "rs1844943796", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1844943796#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NET->NEA).", "chr_id": "10", "chr_pos": "92648365", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T901", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "899", "end_pos": "899" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "926", "end_pos": "926" } ] }, { "type": "snv", "site_list": [ { "start_pos": "37", "end_pos": "37" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "869", "end_pos": "869" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "901", "end_pos": "901" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1029", "end_pos": "1029" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "923", "end_pos": "923" }, { "start_pos": "925", "end_pos": "925" }, { "start_pos": "926", "end_pos": "926" }, { "start_pos": "931", "end_pos": "931" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "P52732-1.899.899", "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": "P52732-1.1029.1029", "start_pos": 1029, "end_pos": 1029, "uniprot_canonical_ac": "P52732-1", "length": 1056, "uniprot_id": "KIF11_HUMAN", "protein_name": "Kinesin-like protein KIF11", "refseq_ac": "NP_004514", "refseq_name": "kinesin-like protein KIF11", "gene_name": "KIF11", "gene_names_uniprotkb": "KIF11; EG5; KNSL1; TRIP5", "gene_names_refseq": "EG5; HKSP; KIF11; KNSL1; MCLMR; TRIP5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" } ], "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": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" } ] } ], "crossref": [ { "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "VPFFQHKKSHGKDKENRGIN", "down_seq": "LERSKVEETTEHLVTKSRLP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" } ], "site_lbl": "Thr1029" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "899", "end_pos": "899" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "926", "end_pos": "926" } ] }, { "type": "snv", "site_list": [ { "start_pos": "37", "end_pos": "37" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "869", "end_pos": "869" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "901", "end_pos": "901" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1029", "end_pos": "1029" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "923", "end_pos": "923" }, { "start_pos": "925", "end_pos": "925" }, { "start_pos": "926", "end_pos": "926" }, { "start_pos": "931", "end_pos": "931" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "P52732-1.1033.1033", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P52732-1.1034.1034", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P52732-1.125.125", "start_pos": 125, "end_pos": 125, "uniprot_canonical_ac": "P52732-1", "length": 1056, "uniprot_id": "KIF11_HUMAN", "protein_name": "Kinesin-like protein KIF11", "refseq_ac": "NP_004514", "refseq_name": "kinesin-like protein KIF11", "gene_name": "KIF11", "gene_names_uniprotkb": "KIF11; EG5; KNSL1; TRIP5", "gene_names_refseq": "EG5; HKSP; KIF11; KNSL1; MCLMR; TRIP5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Src family kinase phosphorylation of the motor domain of the human kinesin-5, Eg5.", "journal": "Cytoskeleton (Hoboken, N.J.)", "date": "2017", "authors": "Bickel KG, Mann BJ, Waitzman JS, Poor TA, Rice SE, Wadsworth P", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "28646493", "url": "https://glygen.org/publication/PubMed/28646493" } ] } ], "crossref": [ { "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "28646493", "url": "https://glygen.org/publication/PubMed/28646493", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "GQTGTGKTFTMEGERSPNEE", "down_seq": "TWEEDPLAGIIPRTLHQIFE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" }, { "database": "PubMed", "id": "28646493", "url": "https://glygen.org/publication/PubMed/28646493" } ], "site_lbl": "Tyr125" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "899", "end_pos": "899" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "926", "end_pos": "926" } ] }, { "type": "snv", "site_list": [ { "start_pos": "37", "end_pos": "37" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "869", "end_pos": "869" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "901", "end_pos": "901" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1029", "end_pos": "1029" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "923", "end_pos": "923" }, { "start_pos": "925", "end_pos": "925" }, { "start_pos": "926", "end_pos": "926" }, { "start_pos": "931", "end_pos": "931" } ] } ], "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": "P52732-1.211.211", "start_pos": 211, "end_pos": 211, "uniprot_canonical_ac": "P52732-1", "length": 1056, "uniprot_id": "KIF11_HUMAN", "protein_name": "Kinesin-like protein KIF11", "refseq_ac": "NP_004514", "refseq_name": "kinesin-like protein KIF11", "gene_name": "KIF11", "gene_names_uniprotkb": "KIF11; EG5; KNSL1; TRIP5", "gene_names_refseq": "EG5; HKSP; KIF11; KNSL1; MCLMR; TRIP5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Src family kinase phosphorylation of the motor domain of the human kinesin-5, Eg5.", "journal": "Cytoskeleton (Hoboken, N.J.)", "date": "2017", "authors": "Bickel KG, Mann BJ, Waitzman JS, Poor TA, Rice SE, Wadsworth P", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "28646493", "url": "https://glygen.org/publication/PubMed/28646493" } ] } ], "crossref": [ { "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "28646493", "url": "https://glygen.org/publication/PubMed/28646493", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "KRGVIIKGLEEITVHNKDEV", "down_seq": "QILEKGAAKRTTAATLMNAY", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" }, { "database": "PubMed", "id": "28646493", "url": "https://glygen.org/publication/PubMed/28646493" } ], "site_lbl": "Tyr211" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "899", "end_pos": "899" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "926", "end_pos": "926" } ] }, { "type": "snv", "site_list": [ { "start_pos": "37", "end_pos": "37" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "869", "end_pos": "869" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "901", "end_pos": "901" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1029", "end_pos": "1029" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "923", "end_pos": "923" }, { "start_pos": "925", "end_pos": "925" }, { "start_pos": "926", "end_pos": "926" }, { "start_pos": "931", "end_pos": "931" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "upstream", "id": "P52732-1.231.231", "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": "P52732-1.231.231", "start_pos": 231, "end_pos": 231, "uniprot_canonical_ac": "P52732-1", "length": 1056, "uniprot_id": "KIF11_HUMAN", "protein_name": "Kinesin-like protein KIF11", "refseq_ac": "NP_004514", "refseq_name": "kinesin-like protein KIF11", "gene_name": "KIF11", "gene_names_uniprotkb": "KIF11; EG5; KNSL1; TRIP5", "gene_names_refseq": "EG5; HKSP; KIF11; KNSL1; MCLMR; TRIP5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] }, { "title": "Src family kinase phosphorylation of the motor domain of the human kinesin-5, Eg5.", "journal": "Cytoskeleton (Hoboken, N.J.)", "date": "2017", "authors": "Bickel KG, Mann BJ, Waitzman JS, Poor TA, Rice SE, Wadsworth P", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "28646493", "url": "https://glygen.org/publication/PubMed/28646493" } ] } ], "crossref": [ { "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28646493", "url": "https://glygen.org/publication/PubMed/28646493", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "YQILEKGAAKRTTAATLMNA", "down_seq": "SSRSHSVFSVTIHMKETTID", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "PubMed", "id": "28646493", "url": "https://glygen.org/publication/PubMed/28646493" } ], "site_lbl": "Tyr231" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "899", "end_pos": "899" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "926", "end_pos": "926" } ] }, { "type": "snv", "site_list": [ { "start_pos": "37", "end_pos": "37" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "869", "end_pos": "869" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "901", "end_pos": "901" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1029", "end_pos": "1029" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "923", "end_pos": "923" }, { "start_pos": "925", "end_pos": "925" }, { "start_pos": "926", "end_pos": "926" }, { "start_pos": "931", "end_pos": "931" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P52732-1.211.211", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P52732-1.232.232", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P52732-1.233.233", "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": "P52732-1.232.232", "start_pos": 232, "end_pos": 232, "uniprot_canonical_ac": "P52732-1", "length": 1056, "uniprot_id": "KIF11_HUMAN", "protein_name": "Kinesin-like protein KIF11", "refseq_ac": "NP_004514", "refseq_name": "kinesin-like protein KIF11", "gene_name": "KIF11", "gene_names_uniprotkb": "KIF11; EG5; KNSL1; TRIP5", "gene_names_refseq": "EG5; HKSP; KIF11; KNSL1; MCLMR; TRIP5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] } ], "crossref": [ { "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QILEKGAAKRTTAATLMNAY", "down_seq": "SRSHSVFSVTIHMKETTIDG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser232" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "899", "end_pos": "899" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "926", "end_pos": "926" } ] }, { "type": "snv", "site_list": [ { "start_pos": "37", "end_pos": "37" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "869", "end_pos": "869" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "901", "end_pos": "901" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1029", "end_pos": "1029" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "923", "end_pos": "923" }, { "start_pos": "925", "end_pos": "925" }, { "start_pos": "926", "end_pos": "926" }, { "start_pos": "931", "end_pos": "931" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "P52732-1.231.231", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P52732-1.233.233", "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": "P52732-1.233.233", "start_pos": 233, "end_pos": 233, "uniprot_canonical_ac": "P52732-1", "length": 1056, "uniprot_id": "KIF11_HUMAN", "protein_name": "Kinesin-like protein KIF11", "refseq_ac": "NP_004514", "refseq_name": "kinesin-like protein KIF11", "gene_name": "KIF11", "gene_names_uniprotkb": "KIF11; EG5; KNSL1; TRIP5", "gene_names_refseq": "EG5; HKSP; KIF11; KNSL1; MCLMR; TRIP5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] } ], "crossref": [ { "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ILEKGAAKRTTAATLMNAYS", "down_seq": "RSHSVFSVTIHMKETTIDGE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser233" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "899", "end_pos": "899" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "926", "end_pos": "926" } ] }, { "type": "snv", "site_list": [ { "start_pos": "37", "end_pos": "37" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "869", "end_pos": "869" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "901", "end_pos": "901" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1029", "end_pos": "1029" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "923", "end_pos": "923" }, { "start_pos": "925", "end_pos": "925" }, { "start_pos": "926", "end_pos": "926" }, { "start_pos": "931", "end_pos": "931" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "P52732-1.231.231", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P52732-1.232.232", "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": "P52732-1.275.275", "start_pos": 275, "end_pos": 275, "uniprot_canonical_ac": "P52732-1", "length": 1056, "uniprot_id": "KIF11_HUMAN", "protein_name": "Kinesin-like protein KIF11", "refseq_ac": "NP_004514", "refseq_name": "kinesin-like protein KIF11", "gene_name": "KIF11", "gene_names_uniprotkb": "KIF11; EG5; KNSL1; TRIP5", "gene_names_refseq": "EG5; HKSP; KIF11; KNSL1; MCLMR; TRIP5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deciphering the landscape of phosphorylated HLA-II ligands.", "journal": "iScience", "date": "2022-05-20", "authors": "Solleder Marthe, Racle Julien, Guillaume Philippe, Coukos George, Bassani-Sternberg Michal, Gfeller David", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ] } ], "crossref": [ { "id": "P52732", "url": "https://www.iedb.org/epitope/P52732", "database": "IEDB", "categories": [ "Other" ] }, { "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LVKIGKLNLVDLAGSENIGR", "down_seq": "GAVDKRAREAGNINQSLLTL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "IEDB", "id": "P52732", "url": "https://www.iedb.org/epitope/P52732" }, { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" }, { "database": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ], "site_lbl": "Ser275" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "899", "end_pos": "899" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "926", "end_pos": "926" } ] }, { "type": "snv", "site_list": [ { "start_pos": "37", "end_pos": "37" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "869", "end_pos": "869" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "901", "end_pos": "901" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1029", "end_pos": "1029" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "923", "end_pos": "923" }, { "start_pos": "925", "end_pos": "925" }, { "start_pos": "926", "end_pos": "926" }, { "start_pos": "931", "end_pos": "931" } ] } ], "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": "P52732-1.458.458", "start_pos": 458, "end_pos": 458, "uniprot_canonical_ac": "P52732-1", "length": 1056, "uniprot_id": "KIF11_HUMAN", "protein_name": "Kinesin-like protein KIF11", "refseq_ac": "NP_004514", "refseq_name": "kinesin-like protein KIF11", "gene_name": "KIF11", "gene_names_uniprotkb": "KIF11; EG5; KNSL1; TRIP5", "gene_names_refseq": "EG5; HKSP; KIF11; KNSL1; MCLMR; TRIP5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" } ], "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": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" }, { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "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": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" }, { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ] }, { "title": "Quantitative analysis of the human spindle phosphoproteome at distinct mitotic stages.", "journal": "Journal of proteome research", "date": "2009", "authors": "Malik R, Lenobel R, Santamaria A, Ries A, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ] } ], "crossref": [ { "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ELFMDNKNELDQCKSDLQNK", "down_seq": "QELETTQKHLQETKLQLVKE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" }, { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ], "site_lbl": "Thr458" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "899", "end_pos": "899" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "926", "end_pos": "926" } ] }, { "type": "snv", "site_list": [ { "start_pos": "37", "end_pos": "37" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "869", "end_pos": "869" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "901", "end_pos": "901" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1029", "end_pos": "1029" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "923", "end_pos": "923" }, { "start_pos": "925", "end_pos": "925" }, { "start_pos": "926", "end_pos": "926" }, { "start_pos": "931", "end_pos": "931" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "P52732-1.445.445", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P52732-1.448.448", "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": "P52732-1.506.506", "start_pos": 506, "end_pos": 506, "uniprot_canonical_ac": "P52732-1", "length": 1056, "uniprot_id": "KIF11_HUMAN", "protein_name": "Kinesin-like protein KIF11", "refseq_ac": "NP_004514", "refseq_name": "kinesin-like protein KIF11", "gene_name": "KIF11", "gene_names_uniprotkb": "KIF11; EG5; KNSL1; TRIP5", "gene_names_refseq": "EG5; HKSP; KIF11; KNSL1; MCLMR; TRIP5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" } ], "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": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732", "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": "ESTEEKLHDAASKLLNTVEE", "down_seq": "TKDVSGLHSKLDRKKAVDQH", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr506" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "899", "end_pos": "899" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "926", "end_pos": "926" } ] }, { "type": "snv", "site_list": [ { "start_pos": "37", "end_pos": "37" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "869", "end_pos": "869" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "901", "end_pos": "901" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1029", "end_pos": "1029" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "923", "end_pos": "923" }, { "start_pos": "925", "end_pos": "925" }, { "start_pos": "926", "end_pos": "926" }, { "start_pos": "931", "end_pos": "931" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "P52732-1.507.507", "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": "P52732-1.507.507", "start_pos": 507, "end_pos": 507, "uniprot_canonical_ac": "P52732-1", "length": 1056, "uniprot_id": "KIF11_HUMAN", "protein_name": "Kinesin-like protein KIF11", "refseq_ac": "NP_004514", "refseq_name": "kinesin-like protein KIF11", "gene_name": "KIF11", "gene_names_uniprotkb": "KIF11; EG5; KNSL1; TRIP5", "gene_names_refseq": "EG5; HKSP; KIF11; KNSL1; MCLMR; TRIP5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" } ], "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": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732", "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": "STEEKLHDAASKLLNTVEET", "down_seq": "KDVSGLHSKLDRKKAVDQHN", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr507" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "899", "end_pos": "899" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "926", "end_pos": "926" } ] }, { "type": "snv", "site_list": [ { "start_pos": "37", "end_pos": "37" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "869", "end_pos": "869" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "901", "end_pos": "901" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1029", "end_pos": "1029" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "923", "end_pos": "923" }, { "start_pos": "925", "end_pos": "925" }, { "start_pos": "926", "end_pos": "926" }, { "start_pos": "931", "end_pos": "931" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "P52732-1.506.506", "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": "P52732-1.62.62", "start_pos": 62, "end_pos": 62, "uniprot_canonical_ac": "P52732-1", "length": 1056, "uniprot_id": "KIF11_HUMAN", "protein_name": "Kinesin-like protein KIF11", "refseq_ac": "NP_004514", "refseq_name": "kinesin-like protein KIF11", "gene_name": "KIF11", "gene_names_uniprotkb": "KIF11; EG5; KNSL1; TRIP5", "gene_names_refseq": "EG5; HKSP; KIF11; KNSL1; MCLMR; TRIP5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" } ], "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": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] } ], "crossref": [ { "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732", "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": "ECDPVRKEVSVRTGGLADKS", "down_seq": "RKTYTFDMVFGASTKQIDVY", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser62" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "899", "end_pos": "899" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "926", "end_pos": "926" } ] }, { "type": "snv", "site_list": [ { "start_pos": "37", "end_pos": "37" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "869", "end_pos": "869" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "901", "end_pos": "901" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1029", "end_pos": "1029" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "923", "end_pos": "923" }, { "start_pos": "925", "end_pos": "925" }, { "start_pos": "926", "end_pos": "926" }, { "start_pos": "931", "end_pos": "931" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "P52732-1.59.59", "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": "P52732-1.923.923", "start_pos": 923, "end_pos": 923, "uniprot_canonical_ac": "P52732-1", "length": 1056, "uniprot_id": "KIF11_HUMAN", "protein_name": "Kinesin-like protein KIF11", "refseq_ac": "NP_004514", "refseq_name": "kinesin-like protein KIF11", "gene_name": "KIF11", "gene_names_uniprotkb": "KIF11; EG5; KNSL1; TRIP5", "gene_names_refseq": "EG5; HKSP; KIF11; KNSL1; MCLMR; TRIP5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phosphopeptide enrichment by aliphatic hydroxy acid-modified metal oxide chromatography for nano-LC-MS/MS in proteomics applications.", "journal": "Molecular & cellular proteomics : MCP", "date": "2007", "authors": "Sugiyama N, Masuda T, Shinoda K, Nakamura A, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ] }, { "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": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Successive and selective release of phosphorylated peptides captured by hydroxy acid-modified metal oxide chromatography.", "journal": "Journal of proteome research", "date": "2008", "authors": "Kyono Y, Sugiyama N, Imami K, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ] }, { "title": "Quantitative analysis of the human spindle phosphoproteome at distinct mitotic stages.", "journal": "Journal of proteome research", "date": "2009", "authors": "Malik R, Lenobel R, Santamaria A, Ries A, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KIGLTKLNCFLEQDLKLDIP", "down_seq": "GTTPQRKSYLYPSTLVRTEP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr923" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "899", "end_pos": "899" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "926", "end_pos": "926" } ] }, { "type": "snv", "site_list": [ { "start_pos": "37", "end_pos": "37" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "869", "end_pos": "869" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "901", "end_pos": "901" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1029", "end_pos": "1029" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "923", "end_pos": "923" }, { "start_pos": "925", "end_pos": "925" }, { "start_pos": "926", "end_pos": "926" }, { "start_pos": "931", "end_pos": "931" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "P52732-1.925.925", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P52732-1.926.926", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P52732-1.931.931", "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": "P52732-1.925.925", "start_pos": 925, "end_pos": 925, "uniprot_canonical_ac": "P52732-1", "length": 1056, "uniprot_id": "KIF11_HUMAN", "protein_name": "Kinesin-like protein KIF11", "refseq_ac": "NP_004514", "refseq_name": "kinesin-like protein KIF11", "gene_name": "KIF11", "gene_names_uniprotkb": "KIF11; EG5; KNSL1; TRIP5", "gene_names_refseq": "EG5; HKSP; KIF11; KNSL1; MCLMR; TRIP5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" } ], "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": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" }, { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "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": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "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": "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": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] }, { "title": "Quantitative analysis of the human spindle phosphoproteome at distinct mitotic stages.", "journal": "Journal of proteome research", "date": "2009", "authors": "Malik R, Lenobel R, Santamaria A, Ries A, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732", "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" ] }, { "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GLTKLNCFLEQDLKLDIPTG", "down_seq": "TPQRKSYLYPSTLVRTEPRE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr925" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "899", "end_pos": "899" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "926", "end_pos": "926" } ] }, { "type": "snv", "site_list": [ { "start_pos": "37", "end_pos": "37" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "869", "end_pos": "869" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "901", "end_pos": "901" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1029", "end_pos": "1029" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "923", "end_pos": "923" }, { "start_pos": "925", "end_pos": "925" }, { "start_pos": "926", "end_pos": "926" }, { "start_pos": "931", "end_pos": "931" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "P52732-1.923.923", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P52732-1.926.926", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P52732-1.931.931", "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": 6 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P52732-1.931.931", "start_pos": 931, "end_pos": 931, "uniprot_canonical_ac": "P52732-1", "length": 1056, "uniprot_id": "KIF11_HUMAN", "protein_name": "Kinesin-like protein KIF11", "refseq_ac": "NP_004514", "refseq_name": "kinesin-like protein KIF11", "gene_name": "KIF11", "gene_names_uniprotkb": "KIF11; EG5; KNSL1; TRIP5", "gene_names_refseq": "EG5; HKSP; KIF11; KNSL1; MCLMR; TRIP5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52732", "url": "https://www.uniprot.org/uniprotkb/P52732" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phosphoproteome analysis of the human mitotic spindle.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Nousiainen M, Sillje HH, Sauer G, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "16565220", "url": "https://glygen.org/publication/PubMed/16565220" } ] }, { "title": "Quantitative analysis of the human spindle phosphoproteome at distinct mitotic stages.", "journal": "Journal of proteome research", "date": "2009", "authors": "Malik R, Lenobel R, Santamaria A, Ries A, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "16565220", "url": "https://glygen.org/publication/PubMed/16565220", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "CFLEQDLKLDIPTGTTPQRK", "down_seq": "YLYPSTLVRTEPREHLLDQL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P52732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P52732" }, { "database": "PubMed", "id": "16565220", "url": "https://glygen.org/publication/PubMed/16565220" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser931" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "899", "end_pos": "899" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "926", "end_pos": "926" } ] }, { "type": "snv", "site_list": [ { "start_pos": "37", "end_pos": "37" }, { "start_pos": "445", "end_pos": "445" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "717", "end_pos": "717" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "848", "end_pos": "848" }, { "start_pos": "869", "end_pos": "869" }, { "start_pos": "899", "end_pos": "899" }, { "start_pos": "901", "end_pos": "901" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1029", "end_pos": "1029" }, { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "923", "end_pos": "923" }, { "start_pos": "925", "end_pos": "925" }, { "start_pos": "926", "end_pos": "926" }, { "start_pos": "931", "end_pos": "931" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "P52732-1.923.923", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P52732-1.925.925", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P52732-1.926.926", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q13886-1.224.224", "start_pos": 224, "end_pos": 224, "uniprot_canonical_ac": "Q13886-1", "length": 244, "uniprot_id": "KLF9_HUMAN", "protein_name": "Krueppel-like factor 9", "refseq_ac": "NP_001197", "refseq_name": "Krueppel-like factor 9", "gene_name": "KLF9", "gene_names_uniprotkb": "KLF9; BTEB1; BTEB", "gene_names_refseq": "BTEB1; BTEB; KLF9", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13886", "url": "https://www.uniprot.org/uniprotkb/Q13886" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13886", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13886", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RCPLCEKRFMRSDHLTKHAR", "down_seq": "HTEFHPSMIKRSKKALANAL", "snv": [ { "evidence": [ { "id": "Q13886", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13886" } ], "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 (4).", "chr_id": "9", "chr_pos": "70387840", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R224", "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:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/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": "224", "end_pos": "224" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "96", "end_pos": "96" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q13886-1.235.235", "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": "Q13886-1.235.235", "start_pos": 235, "end_pos": 235, "uniprot_canonical_ac": "Q13886-1", "length": 244, "uniprot_id": "KLF9_HUMAN", "protein_name": "Krueppel-like factor 9", "refseq_ac": "NP_001197", "refseq_name": "Krueppel-like factor 9", "gene_name": "KLF9", "gene_names_uniprotkb": "KLF9; BTEB1; BTEB", "gene_names_refseq": "BTEB1; BTEB; KLF9", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13886", "url": "https://www.uniprot.org/uniprotkb/Q13886" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13886", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13886", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SDHLTKHARRHTEFHPSMIK", "down_seq": "SKKALANAL", "snv": [ { "evidence": [ { "id": "Q13886", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13886" } ], "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": "9", "chr_pos": "70387807", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R235", "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:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "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": "224", "end_pos": "224" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "96", "end_pos": "96" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q13886-1.224.224", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13886-1.96.96", "start_pos": 96, "end_pos": 96, "uniprot_canonical_ac": "Q13886-1", "length": 244, "uniprot_id": "KLF9_HUMAN", "protein_name": "Krueppel-like factor 9", "refseq_ac": "NP_001197", "refseq_name": "Krueppel-like factor 9", "gene_name": "KLF9", "gene_names_uniprotkb": "KLF9; BTEB1; BTEB", "gene_names_refseq": "BTEB1; BTEB; KLF9", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13886", "url": "https://www.uniprot.org/uniprotkb/Q13886" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13886", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13886", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "IQTPSVCSDSLESPDEDMGS", "down_seq": "SDVTTESGSSPSHSPEERQD", "snv": [ { "evidence": [ { "id": "Q13886", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13886" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "D", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "9", "chr_pos": "70413078", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "D96", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "224", "end_pos": "224" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "96", "end_pos": "96" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_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": "Q13886-1.122.122", "start_pos": 122, "end_pos": 122, "uniprot_canonical_ac": "Q13886-1", "length": 244, "uniprot_id": "KLF9_HUMAN", "protein_name": "Krueppel-like factor 9", "refseq_ac": "NP_001197", "refseq_name": "Krueppel-like factor 9", "gene_name": "KLF9", "gene_names_uniprotkb": "KLF9; BTEB1; BTEB", "gene_names_refseq": "BTEB1; BTEB; KLF9", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13886", "url": "https://www.uniprot.org/uniprotkb/Q13886" } ], "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": "Q13886", "url": "https://www.uniprot.org/uniprotkb/Q13886" }, { "database": "iPTMnet", "id": "Q13886", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q13886" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q13886", "url": "https://www.uniprot.org/uniprotkb/Q13886", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q13886", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q13886", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ESGSSPSHSPEERQDPGSAP", "down_seq": "PLSLLHPGVAAKGKHASEKR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q13886", "url": "https://www.uniprot.org/uniprotkb/Q13886" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q13886", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q13886" } ], "site_lbl": "Ser122" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "224", "end_pos": "224" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "96", "end_pos": "96" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" } ] } ], "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": "Q15334-1.123.123", "start_pos": 123, "end_pos": 123, "uniprot_canonical_ac": "Q15334-1", "length": 1064, "uniprot_id": "L2GL1_HUMAN", "protein_name": "Lethal(2) giant larvae protein homolog 1", "refseq_ac": "", "refseq_name": "", "gene_name": "LLGL1", "gene_names_uniprotkb": "LLGL1; DLG4; HUGL1; HUGL", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" } ], "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": "Q15334", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q15334" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q15334", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q15334" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q15334", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q15334" }, { "database": "O-GlcNAc Atlas", "id": "Q15334", "url": "https://oglcnac.org/atlas/detail/Q15334" }, { "database": "Data Submission", "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "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": "Q15334", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q15334" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15334", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q15334", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15334", "url": "https://oglcnac.org/atlas/detail/Q15334", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142", "database": "Data Submission", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EIVHHNGCAHLEEALSFQLP", "down_seq": "RPGFDGASAPLSLTRVTVVL", "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": "Ser123", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q15334", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q15334" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "Q15334", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q15334" } ] }, { "glytoucan_ac": "G70994MS", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser123", "evidence": [ { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "GLY_000142", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000142" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1058", "end_pos": "1058" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "956", "end_pos": "956" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "659", "end_pos": "659" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "958", "end_pos": "958" }, { "start_pos": "967", "end_pos": "967" }, { "start_pos": "985", "end_pos": "985" } ] } ], "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": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15334-1.1028.1028", "start_pos": 1028, "end_pos": 1028, "uniprot_canonical_ac": "Q15334-1", "length": 1064, "uniprot_id": "L2GL1_HUMAN", "protein_name": "Lethal(2) giant larvae protein homolog 1", "refseq_ac": "", "refseq_name": "", "gene_name": "LLGL1", "gene_names_uniprotkb": "LLGL1; DLG4; HUGL1; HUGL", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs764049583", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764049583", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs764049583", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764049583", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs764049583", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764049583#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs764049583", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764049583", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LSPMSIDSATSADTTLDTTG", "down_seq": "VTVEDVKDFLGSSEESEKNL", "snv": [ { "evidence": [ { "id": "rs764049583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764049583" }, { "id": "rs764049583", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764049583" }, { "id": "rs764049583", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764049583#frequency_tab" }, { "id": "rs764049583", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764049583" } ], "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": "17", "chr_pos": "18242594", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1028", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1058", "end_pos": "1058" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "956", "end_pos": "956" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "659", "end_pos": "659" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "958", "end_pos": "958" }, { "start_pos": "967", "end_pos": "967" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15334-1.1049.1049", "start_pos": 1049, "end_pos": 1049, "uniprot_canonical_ac": "Q15334-1", "length": 1064, "uniprot_id": "L2GL1_HUMAN", "protein_name": "Lethal(2) giant larvae protein homolog 1", "refseq_ac": "", "refseq_name": "", "gene_name": "LLGL1", "gene_names_uniprotkb": "LLGL1; DLG4; HUGL1; HUGL", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1483732508", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1483732508", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1483732508", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1483732508", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VTVEDVKDFLGSSEESEKNL", "down_seq": "NLAEDEAHACAILIK", "snv": [ { "evidence": [ { "id": "rs1483732508", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1483732508" }, { "id": "rs1483732508", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1483732508" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLR->NLS).", "chr_id": "17", "chr_pos": "18242773", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1049", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1058", "end_pos": "1058" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "956", "end_pos": "956" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "659", "end_pos": "659" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "958", "end_pos": "958" }, { "start_pos": "967", "end_pos": "967" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q15334-1.1052.1052", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q15334-1.1057.1057", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q15334-1.1058.1058", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15334-1.1052.1052", "start_pos": 1052, "end_pos": 1052, "uniprot_canonical_ac": "Q15334-1", "length": 1064, "uniprot_id": "L2GL1_HUMAN", "protein_name": "Lethal(2) giant larvae protein homolog 1", "refseq_ac": "", "refseq_name": "", "gene_name": "LLGL1", "gene_names_uniprotkb": "LLGL1; DLG4; HUGL1; HUGL", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1384645713", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1384645713", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1384645713", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1384645713#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "EDVKDFLGSSEESEKNLRNL", "down_seq": "EDEAHACAILIK", "snv": [ { "evidence": [ { "id": "rs1384645713", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1384645713" }, { "id": "rs1384645713", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1384645713#frequency_tab" } ], "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": "17", "chr_pos": "18242780", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1052", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1058", "end_pos": "1058" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "956", "end_pos": "956" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "659", "end_pos": "659" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "958", "end_pos": "958" }, { "start_pos": "967", "end_pos": "967" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q15334-1.1049.1049", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q15334-1.1057.1057", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q15334-1.1058.1058", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15334-1.1057.1057", "start_pos": 1057, "end_pos": 1057, "uniprot_canonical_ac": "Q15334-1", "length": 1064, "uniprot_id": "L2GL1_HUMAN", "protein_name": "Lethal(2) giant larvae protein homolog 1", "refseq_ac": "", "refseq_name": "", "gene_name": "LLGL1", "gene_names_uniprotkb": "LLGL1; DLG4; HUGL1; HUGL", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs866303561", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866303561", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs866303561", "url": "https://www.ensembl.org/id/rs866303561", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "FLGSSEESEKNLRNLAEDEA", "down_seq": "ACAILIK", "snv": [ { "evidence": [ { "id": "rs866303561", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866303561" }, { "id": "rs866303561", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs866303561" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HAC->NAC).", "chr_id": "17", "chr_pos": "18242795", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1057", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1058", "end_pos": "1058" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "956", "end_pos": "956" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "659", "end_pos": "659" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "958", "end_pos": "958" }, { "start_pos": "967", "end_pos": "967" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q15334-1.1049.1049", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q15334-1.1052.1052", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q15334-1.1058.1058", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15334-1.1058.1058", "start_pos": 1058, "end_pos": 1058, "uniprot_canonical_ac": "Q15334-1", "length": 1064, "uniprot_id": "L2GL1_HUMAN", "protein_name": "Lethal(2) giant larvae protein homolog 1", "refseq_ac": "", "refseq_name": "", "gene_name": "LLGL1", "gene_names_uniprotkb": "LLGL1; DLG4; HUGL1; HUGL", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15334", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15334", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "LGSSEESEKNLRNLAEDEAH", "down_seq": "CAILIK", "snv": [ { "evidence": [ { "id": "Q15334", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15334" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "18242798", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A1058", "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": "123", "end_pos": "123" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1058", "end_pos": "1058" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "956", "end_pos": "956" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "659", "end_pos": "659" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "958", "end_pos": "958" }, { "start_pos": "967", "end_pos": "967" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q15334-1.1049.1049", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q15334-1.1052.1052", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q15334-1.1057.1057", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15334-1.164.164", "start_pos": 164, "end_pos": 164, "uniprot_canonical_ac": "Q15334-1", "length": 1064, "uniprot_id": "L2GL1_HUMAN", "protein_name": "Lethal(2) giant larvae protein homolog 1", "refseq_ac": "", "refseq_name": "", "gene_name": "LLGL1", "gene_names_uniprotkb": "LLGL1; DLG4; HUGL1; HUGL", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1219905152", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1219905152", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1219905152", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1219905152#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LVAASDIAALGTEGSSVFFL", "down_seq": "VTTLTLLEGQTLAPGEVLRS", "snv": [ { "evidence": [ { "id": "rs1219905152", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1219905152" }, { "id": "rs1219905152", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1219905152#frequency_tab" } ], "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": "17", "chr_pos": "18233875", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D164", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1058", "end_pos": "1058" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "956", "end_pos": "956" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "659", "end_pos": "659" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "958", "end_pos": "958" }, { "start_pos": "967", "end_pos": "967" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15334-1.190.190", "start_pos": 190, "end_pos": 190, "uniprot_canonical_ac": "Q15334-1", "length": 1064, "uniprot_id": "L2GL1_HUMAN", "protein_name": "Lethal(2) giant larvae protein homolog 1", "refseq_ac": "", "refseq_name": "", "gene_name": "LLGL1", "gene_names_uniprotkb": "LLGL1; DLG4; HUGL1; HUGL", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15334", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15334", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LLEGQTLAPGEVLRSVPDDY", "down_seq": "CGKALGPVESLQGHLRDPTK", "snv": [ { "evidence": [ { "id": "Q15334", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15334" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "18234030", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R190", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "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": "123", "end_pos": "123" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1058", "end_pos": "1058" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "956", "end_pos": "956" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "659", "end_pos": "659" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "958", "end_pos": "958" }, { "start_pos": "967", "end_pos": "967" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15334-1.242.242", "start_pos": 242, "end_pos": 242, "uniprot_canonical_ac": "Q15334-1", "length": 1064, "uniprot_id": "L2GL1_HUMAN", "protein_name": "Lethal(2) giant larvae protein homolog 1", "refseq_ac": "", "refseq_name": "", "gene_name": "LLGL1", "gene_names_uniprotkb": "LLGL1; DLG4; HUGL1; HUGL", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs757876816", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757876816", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs757876816", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757876816", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs757876816", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757876816#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs757876816", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757876816", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "IWNQASQCVDHIFLGNQQLE", "down_seq": "LCWGRDSSTVVSSHSDGSYA", "snv": [ { "evidence": [ { "id": "rs757876816", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757876816" }, { "id": "rs757876816", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757876816" }, { "id": "rs757876816", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757876816#frequency_tab" }, { "id": "rs757876816", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757876816" } ], "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 (SLC->NLC).", "chr_id": "17", "chr_pos": "18234283", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S242", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1058", "end_pos": "1058" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "956", "end_pos": "956" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "659", "end_pos": "659" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "958", "end_pos": "958" }, { "start_pos": "967", "end_pos": "967" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q15334-1.247.247", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q15334-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q15334-1.258.258", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15334-1.247.247", "start_pos": 247, "end_pos": 247, "uniprot_canonical_ac": "Q15334-1", "length": 1064, "uniprot_id": "L2GL1_HUMAN", "protein_name": "Lethal(2) giant larvae protein homolog 1", "refseq_ac": "", "refseq_name": "", "gene_name": "LLGL1", "gene_names_uniprotkb": "LLGL1; DLG4; HUGL1; HUGL", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15334", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15334", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SQCVDHIFLGNQQLESLCWG", "down_seq": "DSSTVVSSHSDGSYAVWSVD", "snv": [ { "evidence": [ { "id": "Q15334", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15334" } ], "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": "17", "chr_pos": "18234298", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R247", "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: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": "123", "end_pos": "123" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1058", "end_pos": "1058" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "956", "end_pos": "956" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "659", "end_pos": "659" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "958", "end_pos": "958" }, { "start_pos": "967", "end_pos": "967" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q15334-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q15334-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q15334-1.258.258", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15334-1.249.249", "start_pos": 249, "end_pos": 249, "uniprot_canonical_ac": "Q15334-1", "length": 1064, "uniprot_id": "L2GL1_HUMAN", "protein_name": "Lethal(2) giant larvae protein homolog 1", "refseq_ac": "", "refseq_name": "", "gene_name": "LLGL1", "gene_names_uniprotkb": "LLGL1; DLG4; HUGL1; HUGL", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1208994454", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1208994454", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1208994454", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1208994454", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "CVDHIFLGNQQLESLCWGRD", "down_seq": "STVVSSHSDGSYAVWSVDAG", "snv": [ { "evidence": [ { "id": "rs1208994454", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1208994454" }, { "id": "rs1208994454", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1208994454" } ], "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": "17", "chr_pos": "18234304", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S249", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1058", "end_pos": "1058" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "956", "end_pos": "956" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "659", "end_pos": "659" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "958", "end_pos": "958" }, { "start_pos": "967", "end_pos": "967" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q15334-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q15334-1.247.247", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q15334-1.258.258", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15334-1.258.258", "start_pos": 258, "end_pos": 258, "uniprot_canonical_ac": "Q15334-1", "length": 1064, "uniprot_id": "L2GL1_HUMAN", "protein_name": "Lethal(2) giant larvae protein homolog 1", "refseq_ac": "", "refseq_name": "", "gene_name": "LLGL1", "gene_names_uniprotkb": "LLGL1; DLG4; HUGL1; HUGL", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs550170712", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs550170712", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs550170712", "url": "http://gnomad.broadinstitute.org/awesome?query=rs550170712", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "QQLESLCWGRDSSTVVSSHS", "down_seq": "GSYAVWSVDAGSFPTLQPTV", "snv": [ { "evidence": [ { "id": "rs550170712", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs550170712" }, { "id": "rs550170712", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs550170712" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DGS->NGS).", "chr_id": "17", "chr_pos": "18234330", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D258", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1058", "end_pos": "1058" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "956", "end_pos": "956" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "659", "end_pos": "659" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "958", "end_pos": "958" }, { "start_pos": "967", "end_pos": "967" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q15334-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q15334-1.247.247", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q15334-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q15334-1.273.273", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15334-1.273.273", "start_pos": 273, "end_pos": 273, "uniprot_canonical_ac": "Q15334-1", "length": 1064, "uniprot_id": "L2GL1_HUMAN", "protein_name": "Lethal(2) giant larvae protein homolog 1", "refseq_ac": "", "refseq_name": "", "gene_name": "LLGL1", "gene_names_uniprotkb": "LLGL1; DLG4; HUGL1; HUGL", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15334", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15334", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "VSSHSDGSYAVWSVDAGSFP", "down_seq": "LQPTVATTPYGPFPCKAINK", "snv": [ { "evidence": [ { "id": "Q15334", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15334" } ], "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 (4).", "chr_id": "17", "chr_pos": "18234376", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T273", "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: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": "123", "end_pos": "123" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1058", "end_pos": "1058" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "956", "end_pos": "956" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "659", "end_pos": "659" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "958", "end_pos": "958" }, { "start_pos": "967", "end_pos": "967" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q15334-1.258.258", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15334-1.294.294", "start_pos": 294, "end_pos": 294, "uniprot_canonical_ac": "Q15334-1", "length": 1064, "uniprot_id": "L2GL1_HUMAN", "protein_name": "Lethal(2) giant larvae protein homolog 1", "refseq_ac": "", "refseq_name": "", "gene_name": "LLGL1", "gene_names_uniprotkb": "LLGL1; DLG4; HUGL1; HUGL", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1397132164", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1397132164", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1397132164", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1397132164#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "LQPTVATTPYGPFPCKAINK", "down_seq": "LWRNCESGGHFIIFSGGMPR", "snv": [ { "evidence": [ { "id": "rs1397132164", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1397132164" }, { "id": "rs1397132164", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1397132164#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKI->NKT).", "chr_id": "17", "chr_pos": "18234679", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I294", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1058", "end_pos": "1058" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "956", "end_pos": "956" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "659", "end_pos": "659" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "958", "end_pos": "958" }, { "start_pos": "967", "end_pos": "967" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15334-1.439.439", "start_pos": 439, "end_pos": 439, "uniprot_canonical_ac": "Q15334-1", "length": 1064, "uniprot_id": "L2GL1_HUMAN", "protein_name": "Lethal(2) giant larvae protein homolog 1", "refseq_ac": "", "refseq_name": "", "gene_name": "LLGL1", "gene_names_uniprotkb": "LLGL1; DLG4; HUGL1; HUGL", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs186995213", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs186995213", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs186995213", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs186995213", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs186995213", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs186995213", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs186995213", "url": "http://gnomad.broadinstitute.org/awesome?query=rs186995213", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "QSPQPVSSALSWPITGGRNL", "down_seq": "QEPSQRGLLLTGHEDGTVRF", "snv": [ { "evidence": [ { "id": "rs186995213", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs186995213" }, { "id": "rs186995213", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs186995213" }, { "id": "rs186995213", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs186995213" }, { "id": "rs186995213", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs186995213" } ], "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": "17", "chr_pos": "18235500", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000588697", "site_lbl": "A439", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1058", "end_pos": "1058" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "956", "end_pos": "956" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "659", "end_pos": "659" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "958", "end_pos": "958" }, { "start_pos": "967", "end_pos": "967" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "upstream", "id": "Q15334-1.454.454", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15334-1.454.454", "start_pos": 454, "end_pos": 454, "uniprot_canonical_ac": "Q15334-1", "length": 1064, "uniprot_id": "L2GL1_HUMAN", "protein_name": "Lethal(2) giant larvae protein homolog 1", "refseq_ac": "", "refseq_name": "", "gene_name": "LLGL1", "gene_names_uniprotkb": "LLGL1; DLG4; HUGL1; HUGL", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2047700131", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2047700131", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2047700131", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2047700131#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "GGRNLAQEPSQRGLLLTGHE", "down_seq": "GTVRFWDASGVALRPLYKLS", "snv": [ { "evidence": [ { "id": "rs2047700131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2047700131" }, { "id": "rs2047700131", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2047700131#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DGT->NGT).", "chr_id": "17", "chr_pos": "18236614", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D454", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1058", "end_pos": "1058" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "956", "end_pos": "956" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "659", "end_pos": "659" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "958", "end_pos": "958" }, { "start_pos": "967", "end_pos": "967" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q15334-1.439.439", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15334-1.47.47", "start_pos": 47, "end_pos": 47, "uniprot_canonical_ac": "Q15334-1", "length": 1064, "uniprot_id": "L2GL1_HUMAN", "protein_name": "Lethal(2) giant larvae protein homolog 1", "refseq_ac": "", "refseq_name": "", "gene_name": "LLGL1", "gene_names_uniprotkb": "LLGL1; DLG4; HUGL1; HUGL", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15334", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15334", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KTVEHGFPNQPSALAFDPEL", "down_seq": "IMAIGTRSGAVKIYGAPGVE", "snv": [ { "evidence": [ { "id": "Q15334", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15334" } ], "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": "17", "chr_pos": "18229999", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R47", "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": "123", "end_pos": "123" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1058", "end_pos": "1058" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "956", "end_pos": "956" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "659", "end_pos": "659" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "958", "end_pos": "958" }, { "start_pos": "967", "end_pos": "967" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15334-1.643.643", "start_pos": 643, "end_pos": 643, "uniprot_canonical_ac": "Q15334-1", "length": 1064, "uniprot_id": "L2GL1_HUMAN", "protein_name": "Lethal(2) giant larvae protein homolog 1", "refseq_ac": "", "refseq_name": "", "gene_name": "LLGL1", "gene_names_uniprotkb": "LLGL1; DLG4; HUGL1; HUGL", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15334", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15334", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LFDYQRKSPVLARCTLHPND", "down_seq": "LAMEGPLSRVKSLKKSLRQS", "snv": [ { "evidence": [ { "id": "Q15334", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15334" } ], "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: num. of cancers (3).", "chr_id": "17", "chr_pos": "18238090", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S643", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1058", "end_pos": "1058" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "956", "end_pos": "956" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "659", "end_pos": "659" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "958", "end_pos": "958" }, { "start_pos": "967", "end_pos": "967" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "upstream", "id": "Q15334-1.659.659", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q15334-1.663.663", "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": "Q15334-1.716.716", "start_pos": 716, "end_pos": 716, "uniprot_canonical_ac": "Q15334-1", "length": 1064, "uniprot_id": "L2GL1_HUMAN", "protein_name": "Lethal(2) giant larvae protein homolog 1", "refseq_ac": "", "refseq_name": "", "gene_name": "LLGL1", "gene_names_uniprotkb": "LLGL1; DLG4; HUGL1; HUGL", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs779411587", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779411587", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs779411587", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779411587", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs779411587", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779411587#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs779411587", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779411587", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "ACPHDVEMTPVQRRIEPRSA", "down_seq": "DSLSGVVRCLYFADTFLRDG", "snv": [ { "evidence": [ { "id": "rs779411587", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779411587" }, { "id": "rs779411587", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779411587" }, { "id": "rs779411587", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779411587#frequency_tab" }, { "id": "rs779411587", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779411587" } ], "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": "17", "chr_pos": "18238549", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D716", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1058", "end_pos": "1058" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "956", "end_pos": "956" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "659", "end_pos": "659" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "958", "end_pos": "958" }, { "start_pos": "967", "end_pos": "967" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q15334-1.704.704", "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": "Q15334-1.908.908", "start_pos": 908, "end_pos": 908, "uniprot_canonical_ac": "Q15334-1", "length": 1064, "uniprot_id": "L2GL1_HUMAN", "protein_name": "Lethal(2) giant larvae protein homolog 1", "refseq_ac": "", "refseq_name": "", "gene_name": "LLGL1", "gene_names_uniprotkb": "LLGL1; DLG4; HUGL1; HUGL", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs920246553", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs920246553", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs920246553", "url": "https://www.ensembl.org/id/rs920246553", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "HVFSVPGLRPQVHYSCIRKE", "down_seq": "ISGIASCVFTRHGQGFYLIS", "snv": [ { "evidence": [ { "id": "rs920246553", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs920246553" }, { "id": "rs920246553", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs920246553" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DIS->NIS).", "chr_id": "17", "chr_pos": "18241670", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D908", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1058", "end_pos": "1058" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "956", "end_pos": "956" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "659", "end_pos": "659" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "958", "end_pos": "958" }, { "start_pos": "967", "end_pos": "967" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15334-1.954.954", "start_pos": 954, "end_pos": 954, "uniprot_canonical_ac": "Q15334-1", "length": 1064, "uniprot_id": "L2GL1_HUMAN", "protein_name": "Lethal(2) giant larvae protein homolog 1", "refseq_ac": "", "refseq_name": "", "gene_name": "LLGL1", "gene_names_uniprotkb": "LLGL1; DLG4; HUGL1; HUGL", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs753088713", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753088713", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs753088713", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753088713", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs753088713", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753088713#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs753088713", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753088713", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "RFSLSARNITEPLCSLDINW", "down_seq": "RDATQASYRIRESPKLSQAN", "snv": [ { "evidence": [ { "id": "rs753088713", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753088713" }, { "id": "rs753088713", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753088713" }, { "id": "rs753088713", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753088713#frequency_tab" }, { "id": "rs753088713", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753088713" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NWP->NWS).", "chr_id": "17", "chr_pos": "18241977", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P954", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753088713", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753088713" }, { "id": "rs753088713", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753088713" }, { "id": "rs753088713", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753088713#frequency_tab" }, { "id": "rs753088713", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753088713" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NWP->NWT).", "chr_id": "17", "chr_pos": "18241977", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P954", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1058", "end_pos": "1058" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "956", "end_pos": "956" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "659", "end_pos": "659" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "958", "end_pos": "958" }, { "start_pos": "967", "end_pos": "967" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q15334-1.956.956", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q15334-1.958.958", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q15334-1.967.967", "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": "Q15334-1.956.956", "start_pos": 956, "end_pos": 956, "uniprot_canonical_ac": "Q15334-1", "length": 1064, "uniprot_id": "L2GL1_HUMAN", "protein_name": "Lethal(2) giant larvae protein homolog 1", "refseq_ac": "", "refseq_name": "", "gene_name": "LLGL1", "gene_names_uniprotkb": "LLGL1; DLG4; HUGL1; HUGL", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15334", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15334", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs200133079", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200133079", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs200133079", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200133079", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs200133079", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200133079#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs200133079", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200133079", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs200133079", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200133079", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SLSARNITEPLCSLDINWPR", "down_seq": "ATQASYRIRESPKLSQANGT", "snv": [ { "evidence": [ { "id": "Q15334", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15334" }, { "id": "rs200133079", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200133079" }, { "id": "rs200133079", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200133079" }, { "id": "rs200133079", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200133079#frequency_tab" }, { "id": "rs200133079", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200133079" }, { "id": "rs200133079", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200133079" } ], "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 (DAT->NAT).", "chr_id": "17", "chr_pos": "18241983", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D956", "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": "123", "end_pos": "123" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1058", "end_pos": "1058" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "956", "end_pos": "956" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "659", "end_pos": "659" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "958", "end_pos": "958" }, { "start_pos": "967", "end_pos": "967" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q15334-1.954.954", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q15334-1.958.958", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q15334-1.967.967", "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": "Q15334-1.987.987", "start_pos": 987, "end_pos": 987, "uniprot_canonical_ac": "Q15334-1", "length": 1064, "uniprot_id": "L2GL1_HUMAN", "protein_name": "Lethal(2) giant larvae protein homolog 1", "refseq_ac": "", "refseq_name": "", "gene_name": "LLGL1", "gene_names_uniprotkb": "LLGL1; DLG4; HUGL1; HUGL", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2047855652", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2047855652", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2047855652", "url": "https://www.ensembl.org/id/rs2047855652", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SPKLSQANGTPSILLAPQSL", "down_seq": "GSPDPAHSMGPDTPEPPEAA", "snv": [ { "evidence": [ { "id": "rs2047855652", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2047855652" }, { "id": "rs2047855652", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2047855652" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DGS->NGS).", "chr_id": "17", "chr_pos": "18242242", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D987", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1058", "end_pos": "1058" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "956", "end_pos": "956" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "659", "end_pos": "659" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "958", "end_pos": "958" }, { "start_pos": "967", "end_pos": "967" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q15334-1.967.967", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q15334-1.985.985", "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": "Q15334-1.659.659", "start_pos": 659, "end_pos": 659, "uniprot_canonical_ac": "Q15334-1", "length": 1064, "uniprot_id": "L2GL1_HUMAN", "protein_name": "Lethal(2) giant larvae protein homolog 1", "refseq_ac": "", "refseq_name": "", "gene_name": "LLGL1", "gene_names_uniprotkb": "LLGL1; DLG4; HUGL1; HUGL", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mammalian Lgl forms a protein complex with PAR-6 and aPKC independently of PAR-3 to regulate epithelial cell polarity.", "journal": "Current biology : CB", "date": "2003", "authors": "Yamanaka T, Horikoshi Y, Sugiyama Y, Ishiyama C, Suzuki A, Hirose T, Iwamatsu A, Shinohara A, Ohno S", "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" }, { "database": "iPTMnet", "id": "Q15334", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15334" } ], "reference": [ { "type": "PubMed", "id": "12725730", "url": "https://glygen.org/publication/PubMed/12725730" } ] } ], "crossref": [ { "id": "Q15334", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15334", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "12725730", "url": "https://glygen.org/publication/PubMed/12725730", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "HPNDSLAMEGPLSRVKSLKK", "down_seq": "LRQSFRRIRKSRVSGKKRAA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P41743-1", "kinase_gene_name": "PRKCI", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q15334", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15334" }, { "database": "PubMed", "id": "12725730", "url": "https://glygen.org/publication/PubMed/12725730" } ], "site_lbl": "Ser659" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1058", "end_pos": "1058" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "956", "end_pos": "956" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "659", "end_pos": "659" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "958", "end_pos": "958" }, { "start_pos": "967", "end_pos": "967" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q15334-1.643.643", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q15334-1.663.663", "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": "Q15334-1.663.663", "start_pos": 663, "end_pos": 663, "uniprot_canonical_ac": "Q15334-1", "length": 1064, "uniprot_id": "L2GL1_HUMAN", "protein_name": "Lethal(2) giant larvae protein homolog 1", "refseq_ac": "", "refseq_name": "", "gene_name": "LLGL1", "gene_names_uniprotkb": "LLGL1; DLG4; HUGL1; HUGL", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mammalian Lgl forms a protein complex with PAR-6 and aPKC independently of PAR-3 to regulate epithelial cell polarity.", "journal": "Current biology : CB", "date": "2003", "authors": "Yamanaka T, Horikoshi Y, Sugiyama Y, Ishiyama C, Suzuki A, Hirose T, Iwamatsu A, Shinohara A, Ohno S", "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" }, { "database": "iPTMnet", "id": "Q15334", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15334" } ], "reference": [ { "type": "PubMed", "id": "12725730", "url": "https://glygen.org/publication/PubMed/12725730" } ] } ], "crossref": [ { "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "12725730", "url": "https://glygen.org/publication/PubMed/12725730", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15334", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15334", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SLAMEGPLSRVKSLKKSLRQ", "down_seq": "FRRIRKSRVSGKKRAANASS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" }, { "database": "PubMed", "id": "12725730", "url": "https://glygen.org/publication/PubMed/12725730" }, { "database": "iPTMnet", "id": "Q15334", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15334" } ], "site_lbl": "Ser663" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1058", "end_pos": "1058" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "956", "end_pos": "956" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "659", "end_pos": "659" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "958", "end_pos": "958" }, { "start_pos": "967", "end_pos": "967" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q15334-1.643.643", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q15334-1.659.659", "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": "Q15334-1.704.704", "start_pos": 704, "end_pos": 704, "uniprot_canonical_ac": "Q15334-1", "length": 1064, "uniprot_id": "L2GL1_HUMAN", "protein_name": "Lethal(2) giant larvae protein homolog 1", "refseq_ac": "", "refseq_name": "", "gene_name": "LLGL1", "gene_names_uniprotkb": "LLGL1; DLG4; HUGL1; HUGL", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mass Spectrometry Based Immunopeptidomics Leads to Robust Predictions of Phosphorylated HLA Class I Ligands.", "journal": "Molecular & cellular proteomics : MCP", "date": "2020-02", "authors": "Solleder Marthe, Guillaume Philippe, Racle Julien, Michaux Justine, Pak Hui-Song, M\u00fcller Markus, Coukos George, Bassani-Sternberg Michal, Gfeller David", "evidence": [ { "database": "iPTMnet", "id": "Q15334", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15334" }, { "database": "IEDB", "id": "455524", "url": "https://www.iedb.org/epitope/455524" }, { "database": "IEDB", "id": "707869", "url": "https://www.iedb.org/epitope/707869" } ], "reference": [ { "type": "PubMed", "id": "31848261", "url": "https://glygen.org/publication/PubMed/31848261" } ] } ], "crossref": [ { "id": "Q15334", "url": "https://www.iedb.org/epitope/Q15334", "database": "IEDB", "categories": [ "Other" ] }, { "id": "Q15334", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15334", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "31848261", "url": "https://glygen.org/publication/PubMed/31848261", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KLQEANAQLAEQACPHDVEM", "down_seq": "PVQRRIEPRSADDSLSGVVR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "IEDB", "id": "Q15334", "url": "https://www.iedb.org/epitope/Q15334" }, { "database": "iPTMnet", "id": "Q15334", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15334" }, { "database": "PubMed", "id": "31848261", "url": "https://glygen.org/publication/PubMed/31848261" } ], "site_lbl": "Thr704" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1058", "end_pos": "1058" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "956", "end_pos": "956" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "659", "end_pos": "659" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "958", "end_pos": "958" }, { "start_pos": "967", "end_pos": "967" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "Q15334-1.716.716", "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": "Q15334-1.958.958", "start_pos": 958, "end_pos": 958, "uniprot_canonical_ac": "Q15334-1", "length": 1064, "uniprot_id": "L2GL1_HUMAN", "protein_name": "Lethal(2) giant larvae protein homolog 1", "refseq_ac": "", "refseq_name": "", "gene_name": "LLGL1", "gene_names_uniprotkb": "LLGL1; DLG4; HUGL1; HUGL", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SARNITEPLCSLDINWPRDA", "down_seq": "QASYRIRESPKLSQANGTPS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" } ], "site_lbl": "Thr958" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1058", "end_pos": "1058" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "956", "end_pos": "956" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "659", "end_pos": "659" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "958", "end_pos": "958" }, { "start_pos": "967", "end_pos": "967" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q15334-1.954.954", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q15334-1.956.956", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q15334-1.967.967", "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": "Q15334-1.967.967", "start_pos": 967, "end_pos": 967, "uniprot_canonical_ac": "Q15334-1", "length": 1064, "uniprot_id": "L2GL1_HUMAN", "protein_name": "Lethal(2) giant larvae protein homolog 1", "refseq_ac": "", "refseq_name": "", "gene_name": "LLGL1", "gene_names_uniprotkb": "LLGL1; DLG4; HUGL1; HUGL", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "CSLDINWPRDATQASYRIRE", "down_seq": "PKLSQANGTPSILLAPQSLD", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" } ], "site_lbl": "Ser967" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1058", "end_pos": "1058" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "956", "end_pos": "956" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "659", "end_pos": "659" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "958", "end_pos": "958" }, { "start_pos": "967", "end_pos": "967" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q15334-1.954.954", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q15334-1.956.956", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q15334-1.958.958", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q15334-1.985.985", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q15334-1.987.987", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15334-1.985.985", "start_pos": 985, "end_pos": 985, "uniprot_canonical_ac": "Q15334-1", "length": 1064, "uniprot_id": "L2GL1_HUMAN", "protein_name": "Lethal(2) giant larvae protein homolog 1", "refseq_ac": "", "refseq_name": "", "gene_name": "LLGL1", "gene_names_uniprotkb": "LLGL1; DLG4; HUGL1; HUGL", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RESPKLSQANGTPSILLAPQ", "down_seq": "LDGSPDPAHSMGPDTPEPPE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15334", "url": "https://www.uniprot.org/uniprotkb/Q15334" } ], "site_lbl": "Ser985" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "123", "end_pos": "123" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1028", "end_pos": "1028" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "1057", "end_pos": "1057" }, { "start_pos": "1058", "end_pos": "1058" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "643", "end_pos": "643" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "954", "end_pos": "954" }, { "start_pos": "956", "end_pos": "956" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "659", "end_pos": "659" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "958", "end_pos": "958" }, { "start_pos": "967", "end_pos": "967" }, { "start_pos": "985", "end_pos": "985" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q15334-1.967.967", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q15334-1.987.987", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5H943-1.34.34", "start_pos": 34, "end_pos": 34, "uniprot_canonical_ac": "Q5H943-1", "length": 113, "uniprot_id": "KKLC1_HUMAN", "protein_name": "Kita-kyushu lung cancer antigen 1", "refseq_ac": "NP_001017978", "refseq_name": "kita-kyushu lung cancer antigen 1", "gene_name": "CT83", "gene_names_uniprotkb": "CT83; CXorf61; KKLC1", "gene_names_refseq": "CT83; CXorf61; KK-LC-1; KKLC1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5H943", "url": "https://www.uniprot.org/uniprotkb/Q5H943" } ], "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": "Q5H943", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5H943", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1556695235", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1556695235", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1556695235", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1556695235", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "ALIVFWKYRRFQRNTGEMSS", "down_seq": "STALALVRPSSSGLINSNTD", "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": "NTGEMSSNSTALALVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn34", "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": "Q5H943", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5H943" }, { "id": "rs1556695235", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1556695235" }, { "id": "rs1556695235", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1556695235" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NST->HST).", "chr_id": "23", "chr_pos": "116461983", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N34", "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": "34", "end_pos": "34" }, { "start_pos": "83", "end_pos": "83" } ] }, { "type": "snv", "site_list": [ { "start_pos": "34", "end_pos": "34" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "8", "end_pos": "8" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q5H943-1.36.36", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5H943-1.83.83", "start_pos": 83, "end_pos": 83, "uniprot_canonical_ac": "Q5H943-1", "length": 113, "uniprot_id": "KKLC1_HUMAN", "protein_name": "Kita-kyushu lung cancer antigen 1", "refseq_ac": "NP_001017978", "refseq_name": "kita-kyushu lung cancer antigen 1", "gene_name": "CT83", "gene_names_uniprotkb": "CT83; CXorf61; KKLC1", "gene_names_refseq": "CT83; CXorf61; KK-LC-1; KKLC1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5H943", "url": "https://www.uniprot.org/uniprotkb/Q5H943" } ], "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": "Q5H943", "url": "https://www.uniprot.org/uniprotkb/Q5H943", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5H943", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5H943", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "SRDILNNFPHSIARQKRILV", "down_seq": "LSMVENKLVELEHTLLSKGF", "glycosylation": [ { "glytoucan_ac": "G95995BI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ILVNLSMVENK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn83", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn83", "evidence": [ { "id": "Q5H943", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q5H943#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "Q5H943", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5H943" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "N", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NLS->TLS).", "chr_id": "23", "chr_pos": "116461835", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N83", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "34", "end_pos": "34" }, { "start_pos": "83", "end_pos": "83" } ] }, { "type": "snv", "site_list": [ { "start_pos": "34", "end_pos": "34" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "8", "end_pos": "8" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q5H943-1.85.85", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_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": "Q5H943-1.36.36", "start_pos": 36, "end_pos": 36, "uniprot_canonical_ac": "Q5H943-1", "length": 113, "uniprot_id": "KKLC1_HUMAN", "protein_name": "Kita-kyushu lung cancer antigen 1", "refseq_ac": "NP_001017978", "refseq_name": "kita-kyushu lung cancer antigen 1", "gene_name": "CT83", "gene_names_uniprotkb": "CT83; CXorf61; KKLC1", "gene_names_refseq": "CT83; CXorf61; KK-LC-1; KKLC1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5H943", "url": "https://www.uniprot.org/uniprotkb/Q5H943" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1928075259", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928075259", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1928075259", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1928075259#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1928075259", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1928075259", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "IVFWKYRRFQRNTGEMSSNS", "down_seq": "ALALVRPSSSGLINSNTDNN", "snv": [ { "evidence": [ { "id": "rs1928075259", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928075259" }, { "id": "rs1928075259", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1928075259#frequency_tab" }, { "id": "rs1928075259", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1928075259" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NST->NSP).", "chr_id": "X", "chr_pos": "116461977", "ref_nt": "G", "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": "83", "end_pos": "83" } ] }, { "type": "snv", "site_list": [ { "start_pos": "34", "end_pos": "34" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "8", "end_pos": "8" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q5H943-1.34.34", "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": "Q5H943-1.58.58", "start_pos": 58, "end_pos": 58, "uniprot_canonical_ac": "Q5H943-1", "length": 113, "uniprot_id": "KKLC1_HUMAN", "protein_name": "Kita-kyushu lung cancer antigen 1", "refseq_ac": "NP_001017978", "refseq_name": "kita-kyushu lung cancer antigen 1", "gene_name": "CT83", "gene_names_uniprotkb": "CT83; CXorf61; KKLC1", "gene_names_refseq": "CT83; CXorf61; KK-LC-1; KKLC1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5H943", "url": "https://www.uniprot.org/uniprotkb/Q5H943" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5H943", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5H943", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs199861269", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199861269", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs199861269", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199861269", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs199861269", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199861269#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs199861269", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199861269", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "LALVRPSSSGLINSNTDNNL", "down_seq": "VYDLSRDILNNFPHSIARQK", "snv": [ { "evidence": [ { "id": "Q5H943", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5H943" }, { "id": "rs199861269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199861269" }, { "id": "rs199861269", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199861269" }, { "id": "rs199861269", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199861269#frequency_tab" }, { "id": "rs199861269", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199861269" } ], "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": "23", "chr_pos": "116461911", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A58", "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": "34", "end_pos": "34" }, { "start_pos": "83", "end_pos": "83" } ] }, { "type": "snv", "site_list": [ { "start_pos": "34", "end_pos": "34" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "8", "end_pos": "8" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q5H943-1.61.61", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5H943-1.61.61", "start_pos": 61, "end_pos": 61, "uniprot_canonical_ac": "Q5H943-1", "length": 113, "uniprot_id": "KKLC1_HUMAN", "protein_name": "Kita-kyushu lung cancer antigen 1", "refseq_ac": "NP_001017978", "refseq_name": "kita-kyushu lung cancer antigen 1", "gene_name": "CT83", "gene_names_uniprotkb": "CT83; CXorf61; KKLC1", "gene_names_refseq": "CT83; CXorf61; KK-LC-1; KKLC1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5H943", "url": "https://www.uniprot.org/uniprotkb/Q5H943" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs781838860", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781838860", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs781838860", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781838860", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs781838860", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781838860", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "VRPSSSGLINSNTDNNLAVY", "down_seq": "LSRDILNNFPHSIARQKRIL", "snv": [ { "evidence": [ { "id": "rs781838860", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781838860" }, { "id": "rs781838860", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781838860" }, { "id": "rs781838860", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781838860" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "X", "chr_pos": "116461902", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D61", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "34", "end_pos": "34" }, { "start_pos": "83", "end_pos": "83" } ] }, { "type": "snv", "site_list": [ { "start_pos": "34", "end_pos": "34" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "8", "end_pos": "8" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q5H943-1.58.58", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5H943-1.85.85", "start_pos": 85, "end_pos": 85, "uniprot_canonical_ac": "Q5H943-1", "length": 113, "uniprot_id": "KKLC1_HUMAN", "protein_name": "Kita-kyushu lung cancer antigen 1", "refseq_ac": "NP_001017978", "refseq_name": "kita-kyushu lung cancer antigen 1", "gene_name": "CT83", "gene_names_uniprotkb": "CT83; CXorf61; KKLC1", "gene_names_refseq": "CT83; CXorf61; KK-LC-1; KKLC1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5H943", "url": "https://www.uniprot.org/uniprotkb/Q5H943" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs782251724", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782251724", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs782251724", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782251724", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs782251724", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782251724", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1569539877", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1569539877", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1569539877", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1569539877", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DILNNFPHSIARQKRILVNL", "down_seq": "MVENKLVELEHTLLSKGFRG", "snv": [ { "evidence": [ { "id": "rs782251724", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782251724" }, { "id": "rs782251724", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782251724" }, { "id": "rs782251724", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782251724" } ], "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 (NLS->NLN).", "chr_id": "X", "chr_pos": "116461829", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S85", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1569539877", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1569539877" }, { "id": "rs1569539877", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1569539877" } ], "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 (NLS->NLR).", "chr_id": "X", "chr_pos": "116461828", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S85", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "34", "end_pos": "34" }, { "start_pos": "83", "end_pos": "83" } ] }, { "type": "snv", "site_list": [ { "start_pos": "34", "end_pos": "34" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "8", "end_pos": "8" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q5H943-1.83.83", "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": "Q5H943-1.8.8", "start_pos": 8, "end_pos": 8, "uniprot_canonical_ac": "Q5H943-1", "length": 113, "uniprot_id": "KKLC1_HUMAN", "protein_name": "Kita-kyushu lung cancer antigen 1", "refseq_ac": "NP_001017978", "refseq_name": "kita-kyushu lung cancer antigen 1", "gene_name": "CT83", "gene_names_uniprotkb": "CT83; CXorf61; KKLC1", "gene_names_refseq": "CT83; CXorf61; KK-LC-1; KKLC1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5H943", "url": "https://www.uniprot.org/uniprotkb/Q5H943" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5H943", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5H943", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "MNFYLLL", "down_seq": "SSILCALIVFWKYRRFQRNT", "snv": [ { "evidence": [ { "id": "Q5H943", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5H943" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "23", "chr_pos": "116462835", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A8", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "34", "end_pos": "34" }, { "start_pos": "83", "end_pos": "83" } ] }, { "type": "snv", "site_list": [ { "start_pos": "34", "end_pos": "34" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "8", "end_pos": "8" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_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": "Q6PI47-1.183.183", "start_pos": 183, "end_pos": 183, "uniprot_canonical_ac": "Q6PI47-1", "length": 426, "uniprot_id": "KCD18_HUMAN", "protein_name": "BTB/POZ domain-containing protein KCTD18", "refseq_ac": "NP_001308476", "refseq_name": "BTB/POZ domain-containing protein KCTD18 isoform 1", "gene_name": "KCTD18", "gene_names_uniprotkb": "KCTD18", "gene_names_refseq": "6530404F10Rik; KCTD18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PI47", "url": "https://www.uniprot.org/uniprotkb/Q6PI47" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Site-specific GlcNAcylation of human erythrocyte proteins: potential biomarker(s) for diabetes.", "journal": "Diabetes", "date": "2009", "authors": "Wang Z, Park K, Comer F, Hsieh-Wilson LC, Saudek CD, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6PI47", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PI47" } ], "reference": [ { "type": "PubMed", "id": "18984734", "url": "https://glygen.org/publication/PubMed/18984734" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6PI47", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PI47" }, { "database": "O-GlcNAc Atlas", "id": "Q6PI47", "url": "https://oglcnac.org/atlas/detail/Q6PI47" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6PI47", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PI47" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "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": "Q6PI47", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PI47" } ], "reference": [ { "type": "PubMed", "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866" } ] }, { "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": "Q6PI47", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PI47" }, { "database": "O-GlcNAc Atlas", "id": "Q6PI47", "url": "https://oglcnac.org/atlas/detail/Q6PI47" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "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": "Q6PI47", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PI47" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "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": "Q6PI47", "url": "https://oglcnac.org/atlas/detail/Q6PI47" } ], "reference": [ { "type": "PubMed", "id": "37541260", "url": "https://glygen.org/publication/PubMed/37541260" } ] } ], "crossref": [ { "id": "18984734", "url": "https://glygen.org/publication/PubMed/18984734", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6PI47", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PI47", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37541260", "url": "https://glygen.org/publication/PubMed/37541260", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6PI47", "url": "https://oglcnac.org/atlas/detail/Q6PI47", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q6PI47", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PI47", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "YATKTDGTDAIEKQLGGRIH", "down_seq": "KGIFKREAGNNVQYIWSYYS", "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": "Ser183", "evidence": [ { "id": "18984734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18984734" }, { "id": "Q6PI47", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PI47" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "37541260", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37541260" }, { "id": "Q6PI47", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6PI47" } ] } ], "snv": [ { "evidence": [ { "id": "Q6PI47", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PI47" } ], "glycoeffect": [ "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: o-glyco-site-loss (S->N).", "chr_id": "2", "chr_pos": "200498909", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S183", "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": "183", "end_pos": "183" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "301", "end_pos": "301" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q6PI47-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q6PI47-1.172.172", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 7 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6PI47-1.292.292", "start_pos": 292, "end_pos": 292, "uniprot_canonical_ac": "Q6PI47-1", "length": 426, "uniprot_id": "KCD18_HUMAN", "protein_name": "BTB/POZ domain-containing protein KCTD18", "refseq_ac": "NP_001308476", "refseq_name": "BTB/POZ domain-containing protein KCTD18 isoform 1", "gene_name": "KCTD18", "gene_names_uniprotkb": "KCTD18", "gene_names_refseq": "6530404F10Rik; KCTD18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PI47", "url": "https://www.uniprot.org/uniprotkb/Q6PI47" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Site-specific GlcNAcylation of human erythrocyte proteins: potential biomarker(s) for diabetes.", "journal": "Diabetes", "date": "2009", "authors": "Wang Z, Park K, Comer F, Hsieh-Wilson LC, Saudek CD, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6PI47", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PI47" } ], "reference": [ { "type": "PubMed", "id": "18984734", "url": "https://glygen.org/publication/PubMed/18984734" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6PI47", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PI47" }, { "database": "O-GlcNAc Atlas", "id": "Q6PI47", "url": "https://oglcnac.org/atlas/detail/Q6PI47" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6PI47", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PI47" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "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": "Q6PI47", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PI47" } ], "reference": [ { "type": "PubMed", "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866" } ] }, { "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": "Q6PI47", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PI47" }, { "database": "O-GlcNAc Atlas", "id": "Q6PI47", "url": "https://oglcnac.org/atlas/detail/Q6PI47" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "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": "Q6PI47", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PI47" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "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": "Q6PI47", "url": "https://oglcnac.org/atlas/detail/Q6PI47" } ], "reference": [ { "type": "PubMed", "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750" } ] } ], "crossref": [ { "id": "18984734", "url": "https://glygen.org/publication/PubMed/18984734", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6PI47", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PI47", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6PI47", "url": "https://oglcnac.org/atlas/detail/Q6PI47", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q6PI47", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PI47", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs370941047", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370941047", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs370941047", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370941047", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs370941047", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370941047#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs370941047", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370941047", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GPKPVRFLGPSTSTQIKVKN", "down_seq": "ASVTVSPASAIQTSAGATAN", "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": "Ser292", "evidence": [ { "id": "18984734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18984734" }, { "id": "Q6PI47", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PI47" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "32938750", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32938750" }, { "id": "Q6PI47", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6PI47" } ] } ], "snv": [ { "evidence": [ { "id": "Q6PI47", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PI47" }, { "id": "rs370941047", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370941047" }, { "id": "rs370941047", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370941047" }, { "id": "rs370941047", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370941047#frequency_tab" }, { "id": "rs370941047", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370941047" } ], "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: o-glyco-site-loss (S->L).", "chr_id": "2", "chr_pos": "200490506", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S292", "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": "183", "end_pos": "183" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "301", "end_pos": "301" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q6PI47-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q6PI47-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q6PI47-1.301.301", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q6PI47-1.309.309", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 7 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6PI47-1.301.301", "start_pos": 301, "end_pos": 301, "uniprot_canonical_ac": "Q6PI47-1", "length": 426, "uniprot_id": "KCD18_HUMAN", "protein_name": "BTB/POZ domain-containing protein KCTD18", "refseq_ac": "NP_001308476", "refseq_name": "BTB/POZ domain-containing protein KCTD18 isoform 1", "gene_name": "KCTD18", "gene_names_uniprotkb": "KCTD18", "gene_names_refseq": "6530404F10Rik; KCTD18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PI47", "url": "https://www.uniprot.org/uniprotkb/Q6PI47" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6PI47", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PI47" }, { "database": "O-GlcNAc Atlas", "id": "Q6PI47", "url": "https://oglcnac.org/atlas/detail/Q6PI47" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q6PI47", "url": "https://oglcnac.org/atlas/detail/Q6PI47" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] } ], "crossref": [ { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6PI47", "url": "https://oglcnac.org/atlas/detail/Q6PI47", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs1045274395", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1045274395", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1045274395", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1045274395#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1045274395", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1045274395", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PSTSTQIKVKNSASVTVSPA", "down_seq": "AIQTSAGATANRFQSGSRRK", "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": "Ser301", "evidence": [ { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "Q6PI47", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6PI47" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" } ] } ], "snv": [ { "evidence": [ { "id": "rs1045274395", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1045274395" }, { "id": "rs1045274395", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1045274395#frequency_tab" }, { "id": "rs1045274395", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1045274395" } ], "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": "2", "chr_pos": "200490480", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S301", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "183", "end_pos": "183" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "301", "end_pos": "301" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q6PI47-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q6PI47-1.292.292", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q6PI47-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q6PI47-1.309.309", "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": "Q6PI47-1.140.140", "start_pos": 140, "end_pos": 140, "uniprot_canonical_ac": "Q6PI47-1", "length": 426, "uniprot_id": "KCD18_HUMAN", "protein_name": "BTB/POZ domain-containing protein KCTD18", "refseq_ac": "NP_001308476", "refseq_name": "BTB/POZ domain-containing protein KCTD18 isoform 1", "gene_name": "KCTD18", "gene_names_uniprotkb": "KCTD18", "gene_names_refseq": "6530404F10Rik; KCTD18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PI47", "url": "https://www.uniprot.org/uniprotkb/Q6PI47" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1019672324", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1019672324", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1019672324", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1019672324#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1019672324", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1019672324", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "IELKKALTDFCDSYGLVCNK", "down_seq": "TVWVLHYLNTSGASCESRII", "snv": [ { "evidence": [ { "id": "rs1019672324", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1019672324" }, { "id": "rs1019672324", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1019672324#frequency_tab" }, { "id": "rs1019672324", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1019672324" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NKP->NKS).", "chr_id": "2", "chr_pos": "200499039", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P140", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "183", "end_pos": "183" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "301", "end_pos": "301" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6PI47-1.168.168", "start_pos": 168, "end_pos": 168, "uniprot_canonical_ac": "Q6PI47-1", "length": 426, "uniprot_id": "KCD18_HUMAN", "protein_name": "BTB/POZ domain-containing protein KCTD18", "refseq_ac": "NP_001308476", "refseq_name": "BTB/POZ domain-containing protein KCTD18 isoform 1", "gene_name": "KCTD18", "gene_names_uniprotkb": "KCTD18", "gene_names_refseq": "6530404F10Rik; KCTD18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PI47", "url": "https://www.uniprot.org/uniprotkb/Q6PI47" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6PI47", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PI47", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LNTSGASCESRIIGVYATKT", "down_seq": "GTDAIEKQLGGRIHSKGIFK", "snv": [ { "evidence": [ { "id": "Q6PI47", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PI47" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DGT->NGT).", "chr_id": "2", "chr_pos": "200498955", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D168", "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": "183", "end_pos": "183" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "301", "end_pos": "301" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q6PI47-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q6PI47-1.183.183", "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": "Q6PI47-1.172.172", "start_pos": 172, "end_pos": 172, "uniprot_canonical_ac": "Q6PI47-1", "length": 426, "uniprot_id": "KCD18_HUMAN", "protein_name": "BTB/POZ domain-containing protein KCTD18", "refseq_ac": "NP_001308476", "refseq_name": "BTB/POZ domain-containing protein KCTD18 isoform 1", "gene_name": "KCTD18", "gene_names_uniprotkb": "KCTD18", "gene_names_refseq": "6530404F10Rik; KCTD18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PI47", "url": "https://www.uniprot.org/uniprotkb/Q6PI47" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6PI47", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PI47", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "GASCESRIIGVYATKTDGTD", "down_seq": "IEKQLGGRIHSKGIFKREAG", "snv": [ { "evidence": [ { "id": "Q6PI47", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PI47" } ], "glycoeffect": [], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "2", "chr_pos": "200498943", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A172", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "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": "183", "end_pos": "183" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "301", "end_pos": "301" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q6PI47-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q6PI47-1.183.183", "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": "Q6PI47-1.19.19", "start_pos": 19, "end_pos": 19, "uniprot_canonical_ac": "Q6PI47-1", "length": 426, "uniprot_id": "KCD18_HUMAN", "protein_name": "BTB/POZ domain-containing protein KCTD18", "refseq_ac": "NP_001308476", "refseq_name": "BTB/POZ domain-containing protein KCTD18 isoform 1", "gene_name": "KCTD18", "gene_names_uniprotkb": "KCTD18", "gene_names_refseq": "6530404F10Rik; KCTD18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PI47", "url": "https://www.uniprot.org/uniprotkb/Q6PI47" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs780454205", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780454205", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs780454205", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780454205", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs780454205", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780454205#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs780454205", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780454205", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "MEGHKAEEEVLDVLRLNV", "down_seq": "GCIYTARRESLCRFKDSMLA", "snv": [ { "evidence": [ { "id": "rs780454205", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780454205" }, { "id": "rs780454205", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780454205" }, { "id": "rs780454205", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780454205#frequency_tab" }, { "id": "rs780454205", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780454205" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVG->NVS).", "chr_id": "2", "chr_pos": "200506962", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G19", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "183", "end_pos": "183" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "301", "end_pos": "301" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6PI47-1.290.290", "start_pos": 290, "end_pos": 290, "uniprot_canonical_ac": "Q6PI47-1", "length": 426, "uniprot_id": "KCD18_HUMAN", "protein_name": "BTB/POZ domain-containing protein KCTD18", "refseq_ac": "NP_001308476", "refseq_name": "BTB/POZ domain-containing protein KCTD18 isoform 1", "gene_name": "KCTD18", "gene_names_uniprotkb": "KCTD18", "gene_names_refseq": "6530404F10Rik; KCTD18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PI47", "url": "https://www.uniprot.org/uniprotkb/Q6PI47" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2087898536", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2087898536", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2087898536", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2087898536#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "KTGPKPVRFLGPSTSTQIKV", "down_seq": "NSASVTVSPASAIQTSAGAT", "snv": [ { "evidence": [ { "id": "rs2087898536", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2087898536" }, { "id": "rs2087898536", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2087898536#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KNS->NNS).", "chr_id": "2", "chr_pos": "200490511", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K290", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "183", "end_pos": "183" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "301", "end_pos": "301" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q6PI47-1.292.292", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q6PI47-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q6PI47-1.301.301", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q6PI47-1.309.309", "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": "Q6PI47-1.293.293", "start_pos": 293, "end_pos": 293, "uniprot_canonical_ac": "Q6PI47-1", "length": 426, "uniprot_id": "KCD18_HUMAN", "protein_name": "BTB/POZ domain-containing protein KCTD18", "refseq_ac": "NP_001308476", "refseq_name": "BTB/POZ domain-containing protein KCTD18 isoform 1", "gene_name": "KCTD18", "gene_names_uniprotkb": "KCTD18", "gene_names_refseq": "6530404F10Rik; KCTD18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PI47", "url": "https://www.uniprot.org/uniprotkb/Q6PI47" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1249182499", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1249182499", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1249182499", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1249182499", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "PKPVRFLGPSTSTQIKVKNS", "down_seq": "SVTVSPASAIQTSAGATANR", "snv": [ { "evidence": [ { "id": "rs1249182499", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1249182499" }, { "id": "rs1249182499", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1249182499" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSA->NST).", "chr_id": "2", "chr_pos": "200490504", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A293", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "183", "end_pos": "183" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "301", "end_pos": "301" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q6PI47-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q6PI47-1.292.292", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q6PI47-1.301.301", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q6PI47-1.309.309", "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": "Q6PI47-1.309.309", "start_pos": 309, "end_pos": 309, "uniprot_canonical_ac": "Q6PI47-1", "length": 426, "uniprot_id": "KCD18_HUMAN", "protein_name": "BTB/POZ domain-containing protein KCTD18", "refseq_ac": "NP_001308476", "refseq_name": "BTB/POZ domain-containing protein KCTD18 isoform 1", "gene_name": "KCTD18", "gene_names_uniprotkb": "KCTD18", "gene_names_refseq": "6530404F10Rik; KCTD18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PI47", "url": "https://www.uniprot.org/uniprotkb/Q6PI47" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6PI47", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PI47", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "VKNSASVTVSPASAIQTSAG", "down_seq": "TANRFQSGSRRKAAQRSAPS", "snv": [ { "evidence": [ { "id": "Q6PI47", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PI47" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "200490455", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A309", "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: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": "183", "end_pos": "183" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "301", "end_pos": "301" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q6PI47-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q6PI47-1.292.292", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q6PI47-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q6PI47-1.301.301", "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": "Q6PI47-1.51.51", "start_pos": 51, "end_pos": 51, "uniprot_canonical_ac": "Q6PI47-1", "length": 426, "uniprot_id": "KCD18_HUMAN", "protein_name": "BTB/POZ domain-containing protein KCTD18", "refseq_ac": "NP_001308476", "refseq_name": "BTB/POZ domain-containing protein KCTD18 isoform 1", "gene_name": "KCTD18", "gene_names_uniprotkb": "KCTD18", "gene_names_refseq": "6530404F10Rik; KCTD18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PI47", "url": "https://www.uniprot.org/uniprotkb/Q6PI47" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2030226892", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2030226892", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2030226892", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2030226892#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "CRFKDSMLASMFSGRFPLKT", "down_seq": "ESGACVIDRDGRLFKYLLDY", "snv": [ { "evidence": [ { "id": "rs2030226892", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2030226892" }, { "id": "rs2030226892", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2030226892#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DES->NES).", "chr_id": "2", "chr_pos": "200506866", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D51", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "183", "end_pos": "183" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "301", "end_pos": "301" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6PI47-1.87.87", "start_pos": 87, "end_pos": 87, "uniprot_canonical_ac": "Q6PI47-1", "length": 426, "uniprot_id": "KCD18_HUMAN", "protein_name": "BTB/POZ domain-containing protein KCTD18", "refseq_ac": "NP_001308476", "refseq_name": "BTB/POZ domain-containing protein KCTD18 isoform 1", "gene_name": "KCTD18", "gene_names_uniprotkb": "KCTD18", "gene_names_refseq": "6530404F10Rik; KCTD18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PI47", "url": "https://www.uniprot.org/uniprotkb/Q6PI47" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6PI47", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PI47", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "YLLDYLHGEVQIPTDEQTRI", "down_seq": "LQEEADYFGIPYPYSLSDHL", "snv": [ { "evidence": [ { "id": "Q6PI47", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PI47" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "2", "chr_pos": "200504861", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A87", "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:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "183", "end_pos": "183" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "301", "end_pos": "301" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXX5-1.1231.1231", "start_pos": 1231, "end_pos": 1231, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs1466948362", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1466948362", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1466948362", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1466948362#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1466948362", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1466948362", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "RHRYRHPSTLQLPHLGFYVA", "down_seq": "GSGLSPSARGLIGQFQHADI", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1231", "evidence": [ { "id": "Q6UXX5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs1466948362", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1466948362" }, { "id": "rs1466948362", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1466948362#frequency_tab" }, { "id": "rs1466948362", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1466948362" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGS->SGS).", "chr_id": "X", "chr_pos": "54751041", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1231", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q6UXX5-1.1233.1233", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXX5-1.374.374", "start_pos": 374, "end_pos": 374, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "MEADGWTDVNSALLAAASVL", "down_seq": "HSNQEPGRGPSVGRIPLIIF", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn374", "evidence": [ { "id": "Q6UXX5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q6UXX5-1.365.365", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q6UXX5-1.376.376", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXX5-1.540.540", "start_pos": 540, "end_pos": 540, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs1036159477", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1036159477", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1036159477", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1036159477#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1036159477", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1036159477", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q6UXX5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LAARGPKDQLLVAHHSEGAT", "down_seq": "NSQKAFGCPGEPAPNVAHFI", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn540", "evidence": [ { "id": "Q6UXX5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs1036159477", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1036159477" }, { "id": "rs1036159477", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1036159477#frequency_tab" }, { "id": "rs1036159477", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1036159477" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NNS->DNS).", "chr_id": "X", "chr_pos": "54758456", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N540", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q6UXX5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NNS->SNS).", "chr_id": "23", "chr_pos": "54758455", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N540", "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": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q6UXX5-1.533.533", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q6UXX5-1.542.542", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q6UXX5-1.557.557", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXX5-1.568.568", "start_pos": 568, "end_pos": 568, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "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": "CPGEPAPNVAHFIRRLWAYV", "down_seq": "IGELLDAHFQARDTTTRHLL", "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": "Thr568", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q6UXX5-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q6UXX5-1.581.581", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q6UXX5-1.582.582", "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": "Q6UXX5-1.594.594", "start_pos": 594, "end_pos": 594, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs1028894075", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1028894075", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1028894075", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1028894075#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1028894075", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1028894075", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "DAHFQARDTTTRHLLAAKVL", "down_seq": "LSLEYNFVTPLTSLVMVQPK", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn594", "evidence": [ { "id": "Q6UXX5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs1028894075", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1028894075" }, { "id": "rs1028894075", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1028894075#frequency_tab" }, { "id": "rs1028894075", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1028894075" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLS->SLS).", "chr_id": "X", "chr_pos": "54758293", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N594", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q6UXX5-1.581.581", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q6UXX5-1.582.582", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q6UXX5-1.596.596", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXX5-1.770.770", "start_pos": 770, "end_pos": 770, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "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": "Q6UXX5", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6UXX5" } ], "reference": [ { "type": "PubMed", "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811" } ] }, { "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": "Q6UXX5", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6UXX5" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "crossref": [ { "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6UXX5", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6UXX5", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs755854059", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755854059", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs755854059", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755854059", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs755854059", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755854059#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs755854059", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755854059", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q6UXX5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DILPTNSRTQVPPVKPGIPA", "down_seq": "PKADTVKCVTPLHSKPGAPS", "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": "Ser770", "evidence": [ { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "Q6UXX5", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6UXX5" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "snv": [ { "evidence": [ { "id": "rs755854059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755854059" }, { "id": "rs755854059", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755854059" }, { "id": "rs755854059", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755854059#frequency_tab" }, { "id": "rs755854059", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755854059" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->*).", "chr_id": "X", "chr_pos": "54757765", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S770", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q6UXX5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5" }, { "id": "rs755854059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755854059" }, { "id": "rs755854059", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755854059" }, { "id": "rs755854059", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755854059#frequency_tab" }, { "id": "rs755854059", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755854059" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->L).", "chr_id": "23", "chr_pos": "54757765", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S770", "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": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q6UXX5-1.750.750", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q6UXX5-1.757.757", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6UXX5-1.83.83", "start_pos": 83, "end_pos": 83, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs1602069740", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1602069740", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1602069740", "url": "https://www.ensembl.org/id/rs1602069740", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "HAEAHEAIFDLDLPHLAFIS", "down_seq": "FTMTINNKVYIAEVKEKHQA", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn83", "evidence": [ { "id": "Q6UXX5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs1602069740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1602069740" }, { "id": "rs1602069740", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1602069740" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NFT->DFT).", "chr_id": "X", "chr_pos": "54796952", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N83", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXX5-1.971.971", "start_pos": 971, "end_pos": 971, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "QRTRQVLGPSRPGVPTMSLL", "down_seq": "SSRPTPEGSPPNLPILLPSS", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn971", "evidence": [ { "id": "Q6UXX5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q6UXX5-1.973.973", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXX5-1.1036.1036", "start_pos": 1036, "end_pos": 1036, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXX5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SKFVESLNPPAFYTFLTPDE", "down_seq": "GSPNWDGNSEEILGGAGGSM", "snv": [ { "evidence": [ { "id": "Q6UXX5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DGS->NGS).", "chr_id": "23", "chr_pos": "54756968", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D1036", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXX5-1.1075.1075", "start_pos": 1075, "end_pos": 1075, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs778690671", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778690671", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs778690671", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778690671", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs778690671", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778690671", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SMESQGSSVGLAKGTLPSIF", "down_seq": "FSSSVDGDPHFVIQIPHSEE", "snv": [ { "evidence": [ { "id": "rs778690671", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778690671" }, { "id": "rs778690671", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778690671" }, { "id": "rs778690671", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778690671" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TFS->NFS).", "chr_id": "X", "chr_pos": "54753944", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1075", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXX5-1.1096.1096", "start_pos": 1096, "end_pos": 1096, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXX5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "FSSSVDGDPHFVIQIPHSEE", "down_seq": "ICFTLNGHPGDLLQLIEDPK", "snv": [ { "evidence": [ { "id": "Q6UXX5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KIC->NIC).", "chr_id": "23", "chr_pos": "54753715", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K1096", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXX5-1.1144.1144", "start_pos": 1144, "end_pos": 1144, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1305467251", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1305467251", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1305467251", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1305467251", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "KLLGAPPRPGHKDQTRTYFQ", "down_seq": "ITVTTDKPRAYTITISRSSI", "snv": [ { "evidence": [ { "id": "rs1305467251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1305467251" }, { "id": "rs1305467251", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1305467251" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IIT->NIT).", "chr_id": "X", "chr_pos": "54751302", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1144", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "upstream", "id": "Q6UXX5-1.1158.1158", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXX5-1.1158.1158", "start_pos": 1158, "end_pos": 1158, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXX5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs776190575", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776190575", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs776190575", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776190575", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs776190575", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776190575", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "TRTYFQIITVTTDKPRAYTI", "down_seq": "ISRSSISLRGEGTLRLSWDQ", "snv": [ { "evidence": [ { "id": "Q6UXX5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5" }, { "id": "rs776190575", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776190575" }, { "id": "rs776190575", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776190575" }, { "id": "rs776190575", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776190575" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (TIS->NIS).", "chr_id": "23", "chr_pos": "54751260", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T1158", "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": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q6UXX5-1.1144.1144", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXX5-1.1233.1233", "start_pos": 1233, "end_pos": 1233, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1213375972", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1213375972", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1213375972", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1213375972", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RYRHPSTLQLPHLGFYVANG", "down_seq": "GLSPSARGLIGQFQHADIRL", "snv": [ { "evidence": [ { "id": "rs1213375972", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1213375972" }, { "id": "rs1213375972", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1213375972" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGS->NGL).", "chr_id": "X", "chr_pos": "54751035", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1233", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q6UXX5-1.1231.1231", "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": "Q6UXX5-1.1276.1276", "start_pos": 1276, "end_pos": 1276, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXX5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "GPMGPCLRRHHGPDVPVILG", "down_seq": "RLLKDSPRLLPRWASCWLVK", "snv": [ { "evidence": [ { "id": "Q6UXX5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "23", "chr_pos": "54750009", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K1276", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q6UXX5-1.1280.1280", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXX5-1.1280.1280", "start_pos": 1280, "end_pos": 1280, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXX5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1387320767", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1387320767", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1387320767", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1387320767#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1387320767", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1387320767", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "PCLRRHHGPDVPVILGKRLL", "down_seq": "DSPRLLPRWASCWLVKRSHV", "snv": [ { "evidence": [ { "id": "Q6UXX5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5" }, { "id": "rs1387320767", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1387320767" }, { "id": "rs1387320767", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1387320767#frequency_tab" }, { "id": "rs1387320767", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1387320767" } ], "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 (KDS->NDS).", "chr_id": "23", "chr_pos": "54749997", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K1280", "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": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q6UXX5-1.1276.1276", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXX5-1.170.170", "start_pos": 170, "end_pos": 170, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXX5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "ELLQRHQGQYQLVVSLRPGQ", "down_seq": "VKRLSIEVTVSERTGISYVH", "snv": [ { "evidence": [ { "id": "Q6UXX5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "L", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "23", "chr_pos": "54790944", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L170", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_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": "Q6UXX5-1.204.204", "start_pos": 204, "end_pos": 204, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXX5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "TGISYVHIPPLRTGRLRTNA", "down_seq": "ASEVDSPPSTRIERGETCVR", "snv": [ { "evidence": [ { "id": "Q6UXX5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5" } ], "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 (HAS->NAS).", "chr_id": "23", "chr_pos": "54790843", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H204", "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": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXX5-1.291.291", "start_pos": 291, "end_pos": 291, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1372355857", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1372355857", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1372355857", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1372355857", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "YFAPRGLPPMEKNVVFVIDV", "down_seq": "SSMFGTKMEQTKTAMNVILS", "snv": [ { "evidence": [ { "id": "rs1372355857", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1372355857" }, { "id": "rs1372355857", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1372355857" } ], "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": "X", "chr_pos": "54774112", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S291", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q6UXX5-1.294.294", "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": "Q6UXX5-1.294.294", "start_pos": 294, "end_pos": 294, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXX5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "PRGLPPMEKNVVFVIDVSSS", "down_seq": "FGTKMEQTKTAMNVILSDLQ", "snv": [ { "evidence": [ { "id": "Q6UXX5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "M", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "23", "chr_pos": "54774103", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "M294", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q6UXX5-1.291.291", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_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": "Q6UXX5-1.318.318", "start_pos": 318, "end_pos": 318, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXX5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "KMEQTKTAMNVILSDLQAND", "down_seq": "FNIISFSDTVNVWKAGGSIQ", "snv": [ { "evidence": [ { "id": "Q6UXX5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NDY->NDC).", "chr_id": "23", "chr_pos": "54759878", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Y318", "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": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q6UXX5-1.322.322", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXX5-1.322.322", "start_pos": 322, "end_pos": 322, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs749531704", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749531704", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs749531704", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749531704", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs749531704", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749531704", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "TKTAMNVILSDLQANDYFNI", "down_seq": "SFSDTVNVWKAGGSIQATIQ", "snv": [ { "evidence": [ { "id": "rs749531704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749531704" }, { "id": "rs749531704", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749531704" }, { "id": "rs749531704", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749531704" } ], "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": "X", "chr_pos": "54759866", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I322", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q6UXX5-1.318.318", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXX5-1.365.365", "start_pos": 365, "end_pos": 365, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXX5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "HSAKDYLHCMEADGWTDVNS", "down_seq": "LLAAASVLNHSNQEPGRGPS", "snv": [ { "evidence": [ { "id": "Q6UXX5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NSA->NST).", "chr_id": "23", "chr_pos": "54758981", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A365", "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": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q6UXX5-1.374.374", "categories": [ "glycosylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q6UXX5-1.376.376", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXX5-1.376.376", "start_pos": 376, "end_pos": 376, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1928576548", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928576548", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1928576548", "url": "https://www.ensembl.org/id/rs1928576548", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1602052355", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1602052355", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1602052355", "url": "https://www.ensembl.org/id/rs1602052355", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ADGWTDVNSALLAAASVLNH", "down_seq": "NQEPGRGPSVGRIPLIIFLT", "snv": [ { "evidence": [ { "id": "rs1928576548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928576548" }, { "id": "rs1928576548", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1928576548" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NHS->NHG).", "chr_id": "X", "chr_pos": "54758948", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S376", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1602052355", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1602052355" }, { "id": "rs1602052355", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1602052355" } ], "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 (NHS->NHN).", "chr_id": "X", "chr_pos": "54758947", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S376", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q6UXX5-1.365.365", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q6UXX5-1.374.374", "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": "Q6UXX5-1.39.39", "start_pos": 39, "end_pos": 39, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs745917161", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745917161", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs745917161", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745917161", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs745917161", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745917161#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs745917161", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745917161", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ELTYQGPPVPASSSTKLLMT", "down_seq": "YSMRSTVVSRYAHTLVTSVL", "snv": [ { "evidence": [ { "id": "rs745917161", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745917161" }, { "id": "rs745917161", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745917161" }, { "id": "rs745917161", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745917161#frequency_tab" }, { "id": "rs745917161", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745917161" } ], "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 (SYS->NYS).", "chr_id": "X", "chr_pos": "54797083", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S39", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q6UXX5-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q6UXX5-1.45.45", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXX5-1.415.415", "start_pos": 415, "end_pos": 415, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXX5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1928571511", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928571511", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1928571511", "url": "https://www.ensembl.org/id/rs1928571511", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LTDGEPTAGVTTPSVILSNV", "down_seq": "QALGHRVSLFSLAFGDDADF", "snv": [ { "evidence": [ { "id": "Q6UXX5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5" }, { "id": "rs1928571511", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928571511" }, { "id": "rs1928571511", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1928571511" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NVR->NVC).", "chr_id": "23", "chr_pos": "54758831", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R415", "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", "ebi", "germline" ] }, { "evidence": [ { "id": "Q6UXX5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NVR->NVS).", "chr_id": "23", "chr_pos": "54758831", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R415", "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": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q6UXX5-1.43.43", "start_pos": 43, "end_pos": 43, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXX5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QGPPVPASSSTKLLMTSYSM", "down_seq": "STVVSRYAHTLVTSVLFNPH", "snv": [ { "evidence": [ { "id": "Q6UXX5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5" } ], "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": "23", "chr_pos": "54797072", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R43", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q6UXX5-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q6UXX5-1.45.45", "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": "Q6UXX5-1.45.45", "start_pos": 45, "end_pos": 45, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXX5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PPVPASSSTKLLMTSYSMRS", "down_seq": "VVSRYAHTLVTSVLFNPHAE", "snv": [ { "evidence": [ { "id": "Q6UXX5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5" } ], "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 (4).", "chr_id": "23", "chr_pos": "54797065", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T45", "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" } ] }, { "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": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q6UXX5-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q6UXX5-1.43.43", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXX5-1.533.533", "start_pos": 533, "end_pos": 533, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1164675065", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1164675065", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1164675065", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1164675065#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1164675065", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1164675065", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "KQELGIHLAARGPKDQLLVA", "down_seq": "HSEGATNNSQKAFGCPGEPA", "snv": [ { "evidence": [ { "id": "rs1164675065", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1164675065" }, { "id": "rs1164675065", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1164675065#frequency_tab" }, { "id": "rs1164675065", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1164675065" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HHS->NHS).", "chr_id": "X", "chr_pos": "54758477", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H533", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q6UXX5-1.540.540", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q6UXX5-1.542.542", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXX5-1.542.542", "start_pos": 542, "end_pos": 542, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs777731769", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777731769", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs777731769", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777731769", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs777731769", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777731769#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs777731769", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777731769", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs2147602385", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2147602385", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2147602385", "url": "https://www.ensembl.org/id/rs2147602385", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ARGPKDQLLVAHHSEGATNN", "down_seq": "QKAFGCPGEPAPNVAHFIRR", "snv": [ { "evidence": [ { "id": "rs777731769", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777731769" }, { "id": "rs777731769", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777731769" }, { "id": "rs777731769", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777731769#frequency_tab" }, { "id": "rs777731769", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777731769" }, { "id": "rs2147602385", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2147602385" }, { "id": "rs2147602385", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2147602385" } ], "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 (NNS->NNR).", "chr_id": "X", "chr_pos": "54758450", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S542", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q6UXX5-1.533.533", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q6UXX5-1.540.540", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q6UXX5-1.557.557", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXX5-1.557.557", "start_pos": 557, "end_pos": 557, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1602051752", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1602051752", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1602051752", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1602051752#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "GATNNSQKAFGCPGEPAPNV", "down_seq": "HFIRRLWAYVTIGELLDAHF", "snv": [ { "evidence": [ { "id": "rs1602051752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1602051752" }, { "id": "rs1602051752", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1602051752#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVA->NVS).", "chr_id": "X", "chr_pos": "54758405", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A557", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1602051752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1602051752" }, { "id": "rs1602051752", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1602051752#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVA->NVT).", "chr_id": "X", "chr_pos": "54758405", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A557", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q6UXX5-1.540.540", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q6UXX5-1.542.542", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q6UXX5-1.568.568", "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": "Q6UXX5-1.581.581", "start_pos": 581, "end_pos": 581, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXX5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1928553263", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928553263", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1928553263", "url": "https://www.ensembl.org/id/rs1928553263", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "RRLWAYVTIGELLDAHFQAR", "down_seq": "TTTRHLLAAKVLNLSLEYNF", "snv": [ { "evidence": [ { "id": "Q6UXX5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5" }, { "id": "rs1928553263", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928553263" }, { "id": "rs1928553263", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1928553263" } ], "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 (DTT->NTT).", "chr_id": "23", "chr_pos": "54758333", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D581", "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": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q6UXX5-1.568.568", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q6UXX5-1.582.582", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q6UXX5-1.594.594", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q6UXX5-1.596.596", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXX5-1.582.582", "start_pos": 582, "end_pos": 582, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs773123070", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773123070", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs773123070", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773123070", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs773123070", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773123070#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs773123070", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773123070", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "RLWAYVTIGELLDAHFQARD", "down_seq": "TTRHLLAAKVLNLSLEYNFV", "snv": [ { "evidence": [ { "id": "rs773123070", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773123070" }, { "id": "rs773123070", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773123070" }, { "id": "rs773123070", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773123070#frequency_tab" }, { "id": "rs773123070", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773123070" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TTT->NTT).", "chr_id": "X", "chr_pos": "54758329", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T582", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q6UXX5-1.568.568", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q6UXX5-1.581.581", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q6UXX5-1.594.594", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q6UXX5-1.596.596", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXX5-1.596.596", "start_pos": 596, "end_pos": 596, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXX5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs780178631", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780178631", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs780178631", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780178631", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs780178631", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780178631#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs780178631", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780178631", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "HFQARDTTTRHLLAAKVLNL", "down_seq": "LEYNFVTPLTSLVMVQPKQA", "snv": [ { "evidence": [ { "id": "Q6UXX5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5" }, { "id": "rs780178631", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780178631" }, { "id": "rs780178631", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780178631" }, { "id": "rs780178631", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780178631#frequency_tab" }, { "id": "rs780178631", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780178631" } ], "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 (NLS->NLF).", "chr_id": "23", "chr_pos": "54758287", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S596", "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": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q6UXX5-1.581.581", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q6UXX5-1.582.582", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q6UXX5-1.594.594", "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": "Q6UXX5-1.750.750", "start_pos": 750, "end_pos": 750, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXX5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "PSNSGTLLPLKPGSLSHQNP", "down_seq": "ILPTNSRTQVPPVKPGIPAS", "snv": [ { "evidence": [ { "id": "Q6UXX5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5" } ], "glycoeffect": [], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "23", "chr_pos": "54757826", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D750", "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: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": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q6UXX5-1.757.757", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q6UXX5-1.770.770", "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": "Q6UXX5-1.757.757", "start_pos": 757, "end_pos": 757, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs745309235", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745309235", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs745309235", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745309235", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs745309235", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745309235", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LPLKPGSLSHQNPDILPTNS", "down_seq": "TQVPPVKPGIPASPKADTVK", "snv": [ { "evidence": [ { "id": "rs745309235", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745309235" }, { "id": "rs745309235", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745309235" }, { "id": "rs745309235", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745309235" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSR->NSS).", "chr_id": "X", "chr_pos": "54757803", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R757", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q6UXX5-1.750.750", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q6UXX5-1.770.770", "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": "Q6UXX5-1.838.838", "start_pos": 838, "end_pos": 838, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXX5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "PKYPLHTRPRVPAPKTRNNM", "down_seq": "HLGPGILLSKTPKILLSLKP", "snv": [ { "evidence": [ { "id": "Q6UXX5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5" } ], "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 (NMP->NMS).", "chr_id": "23", "chr_pos": "54757562", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P838", "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": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXX5-1.868.868", "start_pos": 868, "end_pos": 868, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1569543870", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1569543870", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1569543870", "url": "https://www.ensembl.org/id/rs1569543870", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KTPKILLSLKPSAPPHQIST", "down_seq": "ISLSKPETPNPHMPQTPLPP", "snv": [ { "evidence": [ { "id": "rs1569543870", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1569543870" }, { "id": "rs1569543870", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1569543870" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SIS->NIS).", "chr_id": "X", "chr_pos": "54757471", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S868", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXX5-1.908.908", "start_pos": 908, "end_pos": 908, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1928515459", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928515459", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1928515459", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1928515459#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "PRPDRPRPPLPESLSTFPNT", "down_seq": "SSSTGPSSTTTTSVLGEPLP", "snv": [ { "evidence": [ { "id": "rs1928515459", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928515459" }, { "id": "rs1928515459", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1928515459#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (ISS->NSS).", "chr_id": "X", "chr_pos": "54757351", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I908", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q6UXX5-1.910.910", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q6UXX5-1.915.915", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXX5-1.910.910", "start_pos": 910, "end_pos": 910, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXX5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs756331516", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756331516", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs756331516", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756331516", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs756331516", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756331516", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PDRPRPPLPESLSTFPNTIS", "down_seq": "STGPSSTTTTSVLGEPLPMP", "snv": [ { "evidence": [ { "id": "Q6UXX5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "23", "chr_pos": "54757346", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S910", "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" ] }, { "evidence": [ { "id": "rs756331516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756331516" }, { "id": "rs756331516", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756331516" }, { "id": "rs756331516", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756331516" } ], "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": "X", "chr_pos": "54757345", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S910", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q6UXX5-1.908.908", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q6UXX5-1.915.915", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q6UXX5-1.915.915", "start_pos": 915, "end_pos": 915, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs374186643", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374186643", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs374186643", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374186643", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs374186643", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374186643#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs374186643", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374186643", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PPLPESLSTFPNTISSSTGP", "down_seq": "STTTTSVLGEPLPMPFTPTL", "snv": [ { "evidence": [ { "id": "rs374186643", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374186643" }, { "id": "rs374186643", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374186643" }, { "id": "rs374186643", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374186643#frequency_tab" }, { "id": "rs374186643", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374186643" } ], "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": "X", "chr_pos": "54757330", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S915", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q6UXX5-1.908.908", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q6UXX5-1.910.910", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UXX5-1.973.973", "start_pos": 973, "end_pos": 973, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXX5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TRQVLGPSRPGVPTMSLLNS", "down_seq": "RPTPEGSPPNLPILLPSSIL", "snv": [ { "evidence": [ { "id": "Q6UXX5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NSS->NSA).", "chr_id": "23", "chr_pos": "54757157", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S973", "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": "Q6UXX5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NSS->NSF).", "chr_id": "23", "chr_pos": "54757156", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S973", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q6UXX5-1.971.971", "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": "Q6UXX5-1.994.994", "start_pos": 994, "end_pos": 994, "uniprot_canonical_ac": "Q6UXX5-1", "length": 1313, "uniprot_id": "ITIH6_HUMAN", "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H6", "refseq_ac": "NP_940912", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H6 precursor", "gene_name": "ITIH6", "gene_names_uniprotkb": "ITIH6; ITIH5L; PRO21074", "gene_names_refseq": "ITIH5L; ITIH6; UNQ6369; dJ14O9.1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXX5", "url": "https://www.uniprot.org/uniprotkb/Q6UXX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UXX5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "RPTPEGSPPNLPILLPSSIL", "down_seq": "EAISLLLLPEELELLSESMV", "snv": [ { "evidence": [ { "id": "Q6UXX5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "23", "chr_pos": "54757093", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P994", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q6UXX5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6UXX5" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "23", "chr_pos": "54757094", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P994", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "971", "end_pos": "971" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1036", "end_pos": "1036" }, { "start_pos": "1075", "end_pos": "1075" }, { "start_pos": "1096", "end_pos": "1096" }, { "start_pos": "1144", "end_pos": "1144" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1231", "end_pos": "1231" }, { "start_pos": "1233", "end_pos": "1233" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1280", "end_pos": "1280" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "594", "end_pos": "594" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "770", "end_pos": "770" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "868", "end_pos": "868" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "915", "end_pos": "915" }, { "start_pos": "973", "end_pos": "973" }, { "start_pos": "994", "end_pos": "994" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q8IUG1-1.16.16", "start_pos": 16, "end_pos": 16, "uniprot_canonical_ac": "Q8IUG1-1", "length": 167, "uniprot_id": "KRA13_HUMAN", "protein_name": "Keratin-associated protein 1-3", "refseq_ac": "NP_112228", "refseq_name": "keratin-associated protein 1-3", "gene_name": "KRTAP1-3", "gene_names_uniprotkb": "KRTAP1-3; B2B; KAP1.2; KAP1.3; KAP1.8; KAP1.9; KRATP1.9; KRTAP1.8", "gene_names_refseq": "KAP1.2; KAP1.3; KAP1.6; KAP1.8A; KAP1.8B; KAP1.9; KRTAP1-3; KRTAP1.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IUG1", "url": "https://www.uniprot.org/uniprotkb/Q8IUG1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IUG1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IUG1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "MTCCQTSFCGYPSCS", "down_seq": "SGTCGSSCCQPSCCETSCCQ", "snv": [ { "evidence": [ { "id": "Q8IUG1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IUG1" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "41034775", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T16", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID: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": "16", "end_pos": "16" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "upstream", "id": "Q8IUG1-1.34.34", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IUG1-1.34.34", "start_pos": 34, "end_pos": 34, "uniprot_canonical_ac": "Q8IUG1-1", "length": 167, "uniprot_id": "KRA13_HUMAN", "protein_name": "Keratin-associated protein 1-3", "refseq_ac": "NP_112228", "refseq_name": "keratin-associated protein 1-3", "gene_name": "KRTAP1-3", "gene_names_uniprotkb": "KRTAP1-3; B2B; KAP1.2; KAP1.3; KAP1.8; KAP1.9; KRATP1.9; KRTAP1.8", "gene_names_refseq": "KAP1.2; KAP1.3; KAP1.6; KAP1.8A; KAP1.8B; KAP1.9; KRTAP1-3; KRTAP1.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IUG1", "url": "https://www.uniprot.org/uniprotkb/Q8IUG1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IUG1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IUG1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "CSTSGTCGSSCCQPSCCETS", "down_seq": "CQPSCCQTSFCGFPSFSTSG", "snv": [ { "evidence": [ { "id": "Q8IUG1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IUG1" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "4", "frequency": "0.1", "sequence_org": "C", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "41034721", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "C34", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "16", "end_pos": "16" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q8IUG1-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q8IUG1-1.44.44", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IUG1-1.44.44", "start_pos": 44, "end_pos": 44, "uniprot_canonical_ac": "Q8IUG1-1", "length": 167, "uniprot_id": "KRA13_HUMAN", "protein_name": "Keratin-associated protein 1-3", "refseq_ac": "NP_112228", "refseq_name": "keratin-associated protein 1-3", "gene_name": "KRTAP1-3", "gene_names_uniprotkb": "KRTAP1-3; B2B; KAP1.2; KAP1.3; KAP1.8; KAP1.9; KRATP1.9; KRTAP1.8", "gene_names_refseq": "KAP1.2; KAP1.3; KAP1.6; KAP1.8A; KAP1.8B; KAP1.9; KRTAP1-3; KRTAP1.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IUG1", "url": "https://www.uniprot.org/uniprotkb/Q8IUG1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IUG1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IUG1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "CCQPSCCETSCCQPSCCQTS", "down_seq": "CGFPSFSTSGTCSSSCCQPS", "snv": [ { "evidence": [ { "id": "Q8IUG1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IUG1" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "F", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "17", "chr_pos": "41034691", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "F44", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "16", "end_pos": "16" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q8IUG1-1.34.34", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_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": "Q8IUG1-1.89.89", "start_pos": 89, "end_pos": 89, "uniprot_canonical_ac": "Q8IUG1-1", "length": 167, "uniprot_id": "KRA13_HUMAN", "protein_name": "Keratin-associated protein 1-3", "refseq_ac": "NP_112228", "refseq_name": "keratin-associated protein 1-3", "gene_name": "KRTAP1-3", "gene_names_uniprotkb": "KRTAP1-3; B2B; KAP1.2; KAP1.3; KAP1.8; KAP1.9; KRATP1.9; KRTAP1.8", "gene_names_refseq": "KAP1.2; KAP1.3; KAP1.6; KAP1.8A; KAP1.8B; KAP1.9; KRTAP1-3; KRTAP1.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IUG1", "url": "https://www.uniprot.org/uniprotkb/Q8IUG1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IUG1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IUG1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "SCCQPSCCQTSSCGTGCGIG", "down_seq": "GIGYGQEGSSGAVSTRIRWC", "snv": [ { "evidence": [ { "id": "Q8IUG1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IUG1" } ], "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": "17", "chr_pos": "41034557", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G89", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "16", "end_pos": "16" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "Q8IUG1-1.99.99", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_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": "Q8IUG1-1.99.99", "start_pos": 99, "end_pos": 99, "uniprot_canonical_ac": "Q8IUG1-1", "length": 167, "uniprot_id": "KRA13_HUMAN", "protein_name": "Keratin-associated protein 1-3", "refseq_ac": "NP_112228", "refseq_name": "keratin-associated protein 1-3", "gene_name": "KRTAP1-3", "gene_names_uniprotkb": "KRTAP1-3; B2B; KAP1.2; KAP1.3; KAP1.8; KAP1.9; KRATP1.9; KRTAP1.8", "gene_names_refseq": "KAP1.2; KAP1.3; KAP1.6; KAP1.8A; KAP1.8B; KAP1.9; KRTAP1-3; KRTAP1.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IUG1", "url": "https://www.uniprot.org/uniprotkb/Q8IUG1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IUG1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IUG1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SSCGTGCGIGGGIGYGQEGS", "down_seq": "GAVSTRIRWCRPDCRVEGTC", "snv": [ { "evidence": [ { "id": "Q8IUG1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IUG1" } ], "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 (6).", "chr_id": "17", "chr_pos": "41034527", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S99", "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: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: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": "16", "end_pos": "16" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q8IUG1-1.89.89", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N5I3-1.207.207", "start_pos": 207, "end_pos": 207, "uniprot_canonical_ac": "Q8N5I3-1", "length": 272, "uniprot_id": "KCNRG_HUMAN", "protein_name": "Potassium channel regulatory protein", "refseq_ac": "NP_775876", "refseq_name": "potassium channel regulatory protein isoform 1", "gene_name": "KCNRG", "gene_names_uniprotkb": "KCNRG; CLLD4", "gene_names_refseq": "DLTET; KCNRG", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N5I3", "url": "https://www.uniprot.org/uniprotkb/Q8N5I3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8N5I3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N5I3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "DNQTGVRYVSIKPDNRKLAN", "down_seq": "TNVLGLLIDTLLKEGFHLVS", "snv": [ { "evidence": [ { "id": "Q8N5I3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N5I3" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "13", "chr_pos": "50020254", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G207", "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:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "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": "207", "end_pos": "207" }, { "start_pos": "92", "end_pos": "92" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "208", "end_pos": "208" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q8N5I3-1.208.208", "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": "Q8N5I3-1.92.92", "start_pos": 92, "end_pos": 92, "uniprot_canonical_ac": "Q8N5I3-1", "length": 272, "uniprot_id": "KCNRG_HUMAN", "protein_name": "Potassium channel regulatory protein", "refseq_ac": "NP_775876", "refseq_name": "potassium channel regulatory protein isoform 1", "gene_name": "KCNRG", "gene_names_uniprotkb": "KCNRG; CLLD4", "gene_names_refseq": "DLTET; KCNRG", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N5I3", "url": "https://www.uniprot.org/uniprotkb/Q8N5I3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8N5I3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N5I3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LPTEFSDYLRLQREALFYEL", "down_seq": "SLVDLLNPYLLQPRPALVEV", "snv": [ { "evidence": [ { "id": "Q8N5I3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N5I3" } ], "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": "13", "chr_pos": "50015768", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R92", "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": "207", "end_pos": "207" }, { "start_pos": "92", "end_pos": "92" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "208", "end_pos": "208" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N5I3-1.208.208", "start_pos": 208, "end_pos": 208, "uniprot_canonical_ac": "Q8N5I3-1", "length": 272, "uniprot_id": "KCNRG_HUMAN", "protein_name": "Potassium channel regulatory protein", "refseq_ac": "NP_775876", "refseq_name": "potassium channel regulatory protein isoform 1", "gene_name": "KCNRG", "gene_names_uniprotkb": "KCNRG; CLLD4", "gene_names_refseq": "DLTET; KCNRG", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N5I3", "url": "https://www.uniprot.org/uniprotkb/Q8N5I3" } ], "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": "Q8N5I3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5I3-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] } ], "crossref": [ { "id": "Q8N5I3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5I3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "NQTGVRYVSIKPDNRKLANG", "down_seq": "NVLGLLIDTLLKEGFHLVST", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N5I3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5I3" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Thr208" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "92", "end_pos": "92" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "208", "end_pos": "208" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q8N5I3-1.207.207", "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": "Q8NC54-1.109.109", "start_pos": 109, "end_pos": 109, "uniprot_canonical_ac": "Q8NC54-1", "length": 265, "uniprot_id": "KCT2_HUMAN", "protein_name": "Keratinocyte-associated transmembrane protein 2", "refseq_ac": "NP_064584", "refseq_name": "keratinocyte-associated transmembrane protein 2 precursor", "gene_name": "KCT2", "gene_names_uniprotkb": "KCT2; C5orf15; HTGN29", "gene_names_refseq": "C5orf15; HTGN29; KCT2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NC54", "url": "https://www.uniprot.org/uniprotkb/Q8NC54" } ], "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": "PPTTSTKKSGGASVVPHPSP", "down_seq": "PLSQEEADNNEDPSIEEEDL", "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": "Thr109", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" } ] }, { "type": "snv", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "256", "end_pos": "256" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q8NC54-1.95.95", "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": "Q8NC54-1.181.181", "start_pos": 181, "end_pos": 181, "uniprot_canonical_ac": "Q8NC54-1", "length": 265, "uniprot_id": "KCT2_HUMAN", "protein_name": "Keratinocyte-associated transmembrane protein 2", "refseq_ac": "NP_064584", "refseq_name": "keratinocyte-associated transmembrane protein 2 precursor", "gene_name": "KCT2", "gene_names_uniprotkb": "KCT2; C5orf15; HTGN29", "gene_names_refseq": "C5orf15; HTGN29; KCT2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NC54", "url": "https://www.uniprot.org/uniprotkb/Q8NC54" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8NC54", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NC54" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] } ], "crossref": [ { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8NC54", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NC54", "database": "O-GlcNAc Database", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DDDESDDTLEENRGYMEIEQ", "down_seq": "VKSFKMPSSNIEEEDSHFFF", "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": "Ser181", "evidence": [ { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "Q8NC54", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NC54" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" } ] }, { "type": "snv", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "256", "end_pos": "256" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q8NC54-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q8NC54-1.165.165", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q8NC54-1.168.168", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q8NC54-1.174.174", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8NC54-1.51.51", "start_pos": 51, "end_pos": 51, "uniprot_canonical_ac": "Q8NC54-1", "length": 265, "uniprot_id": "KCT2_HUMAN", "protein_name": "Keratinocyte-associated transmembrane protein 2", "refseq_ac": "NP_064584", "refseq_name": "keratinocyte-associated transmembrane protein 2 precursor", "gene_name": "KCT2", "gene_names_uniprotkb": "KCT2; C5orf15; HTGN29", "gene_names_refseq": "C5orf15; HTGN29; KCT2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NC54", "url": "https://www.uniprot.org/uniprotkb/Q8NC54" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Probing the O-glycoproteome of gastric cancer cell lines for biomarker discovery.", "journal": "Molecular & cellular proteomics : MCP", "date": "2015", "authors": "Campos D, Freitas D, Gomes J, Magalhaes A, Steentoft C, Gomes C, Vester-Christensen MB, Ferreira JA, Afonso LP, Santos LL, Pinto de Sousa J, Mandel U, Clausen H, Vakhrushev SY, Reis CA", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "reference": [ { "type": "PubMed", "id": "25813380", "url": "https://glygen.org/publication/PubMed/25813380" } ] }, { "title": "Probing the O-Glycoproteome of Gastric Cancer Cell Lines for Biomarker Discovery", "journal": "Molecular & Cellular Proteomics", "date": "2015", "authors": "Campos D., Freitas D., Gomes J., Magalh\u00e3es A., Steentoft C., Gomes C., Vester-Christensen M. B., Ferreira J. A., Afonso L. P., Santos L. L., Pinto de Sousa J., Mandel U., Clausen H., Vakhrushev S. Y., Reis C. A.", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "reference": [ { "type": "DOI", "id": "10.1074/mcp.M114.046862", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] } ], "crossref": [ { "id": "25813380", "url": "https://glygen.org/publication/PubMed/25813380", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040", "database": "UniCarbKB", "categories": [] }, { "id": "10.1074/mcp.M114.046862", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862", "database": "DOI", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "RPLVLALLLVSAALSSVVSR", "down_seq": "DSPSPTVLNSHISTPNVNAL", "glycosylation": [ { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr51", "evidence": [ { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" } ] }, { "type": "snv", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "256", "end_pos": "256" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q8NC54-1.53.53", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8NC54-1.55.55", "categories": [ "glycosylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8NC54-1.60.71", "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": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8NC54-1.53.53", "start_pos": 53, "end_pos": 53, "uniprot_canonical_ac": "Q8NC54-1", "length": 265, "uniprot_id": "KCT2_HUMAN", "protein_name": "Keratinocyte-associated transmembrane protein 2", "refseq_ac": "NP_064584", "refseq_name": "keratinocyte-associated transmembrane protein 2 precursor", "gene_name": "KCT2", "gene_names_uniprotkb": "KCT2; C5orf15; HTGN29", "gene_names_refseq": "C5orf15; HTGN29; KCT2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NC54", "url": "https://www.uniprot.org/uniprotkb/Q8NC54" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Probing the O-glycoproteome of gastric cancer cell lines for biomarker discovery.", "journal": "Molecular & cellular proteomics : MCP", "date": "2015", "authors": "Campos D, Freitas D, Gomes J, Magalhaes A, Steentoft C, Gomes C, Vester-Christensen MB, Ferreira JA, Afonso LP, Santos LL, Pinto de Sousa J, Mandel U, Clausen H, Vakhrushev SY, Reis CA", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "reference": [ { "type": "PubMed", "id": "25813380", "url": "https://glygen.org/publication/PubMed/25813380" } ] }, { "title": "Probing the O-Glycoproteome of Gastric Cancer Cell Lines for Biomarker Discovery", "journal": "Molecular & Cellular Proteomics", "date": "2015", "authors": "Campos D., Freitas D., Gomes J., Magalh\u00e3es A., Steentoft C., Gomes C., Vester-Christensen M. B., Ferreira J. A., Afonso L. P., Santos L. L., Pinto de Sousa J., Mandel U., Clausen H., Vakhrushev S. Y., Reis C. A.", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "reference": [ { "type": "DOI", "id": "10.1074/mcp.M114.046862", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] } ], "crossref": [ { "id": "25813380", "url": "https://glygen.org/publication/PubMed/25813380", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040", "database": "UniCarbKB", "categories": [] }, { "id": "10.1074/mcp.M114.046862", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862", "database": "DOI", "categories": [ "Other" ] }, { "id": "rs1362388823", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1362388823", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1362388823", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1362388823#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1362388823", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1362388823", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LVLALLLVSAALSSVVSRTD", "down_seq": "PSPTVLNSHISTPNVNALTH", "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": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser53", "evidence": [ { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] } ], "snv": [ { "evidence": [ { "id": "rs1362388823", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1362388823" }, { "id": "rs1362388823", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1362388823#frequency_tab" }, { "id": "rs1362388823", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1362388823" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->*).", "chr_id": "5", "chr_pos": "133960002", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S53", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" } ] }, { "type": "snv", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "256", "end_pos": "256" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q8NC54-1.51.51", "categories": [ "glycosylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8NC54-1.55.55", "categories": [ "glycosylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q8NC54-1.60.71", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8NC54-1.55.55", "start_pos": 55, "end_pos": 55, "uniprot_canonical_ac": "Q8NC54-1", "length": 265, "uniprot_id": "KCT2_HUMAN", "protein_name": "Keratinocyte-associated transmembrane protein 2", "refseq_ac": "NP_064584", "refseq_name": "keratinocyte-associated transmembrane protein 2 precursor", "gene_name": "KCT2", "gene_names_uniprotkb": "KCT2; C5orf15; HTGN29", "gene_names_refseq": "C5orf15; HTGN29; KCT2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NC54", "url": "https://www.uniprot.org/uniprotkb/Q8NC54" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Probing the O-glycoproteome of gastric cancer cell lines for biomarker discovery.", "journal": "Molecular & cellular proteomics : MCP", "date": "2015", "authors": "Campos D, Freitas D, Gomes J, Magalhaes A, Steentoft C, Gomes C, Vester-Christensen MB, Ferreira JA, Afonso LP, Santos LL, Pinto de Sousa J, Mandel U, Clausen H, Vakhrushev SY, Reis CA", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "reference": [ { "type": "PubMed", "id": "25813380", "url": "https://glygen.org/publication/PubMed/25813380" } ] }, { "title": "Probing the O-Glycoproteome of Gastric Cancer Cell Lines for Biomarker Discovery", "journal": "Molecular & Cellular Proteomics", "date": "2015", "authors": "Campos D., Freitas D., Gomes J., Magalh\u00e3es A., Steentoft C., Gomes C., Vester-Christensen M. B., Ferreira J. A., Afonso L. P., Santos L. L., Pinto de Sousa J., Mandel U., Clausen H., Vakhrushev S. Y., Reis C. A.", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "reference": [ { "type": "DOI", "id": "10.1074/mcp.M114.046862", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] } ], "crossref": [ { "id": "25813380", "url": "https://glygen.org/publication/PubMed/25813380", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040", "database": "UniCarbKB", "categories": [] }, { "id": "10.1074/mcp.M114.046862", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862", "database": "DOI", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LALLLVSAALSSVVSRTDSP", "down_seq": "PTVLNSHISTPNVNALTHEN", "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": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser55", "evidence": [ { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" } ] }, { "type": "snv", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "256", "end_pos": "256" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q8NC54-1.51.51", "categories": [ "glycosylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8NC54-1.53.53", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q8NC54-1.60.71", "categories": [ "glycosylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8NC54-1.75.75", "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": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8NC54-1.60.71", "start_pos": 60, "end_pos": 71, "uniprot_canonical_ac": "Q8NC54-1", "length": 265, "uniprot_id": "KCT2_HUMAN", "protein_name": "Keratinocyte-associated transmembrane protein 2", "refseq_ac": "NP_064584", "refseq_name": "keratinocyte-associated transmembrane protein 2 precursor", "gene_name": "KCT2", "gene_names_uniprotkb": "KCT2; C5orf15; HTGN29", "gene_names_refseq": "C5orf15; HTGN29; KCT2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NC54", "url": "https://www.uniprot.org/uniprotkb/Q8NC54" } ], "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": "NSHISTPNVNAL", "start_aa": "N", "up_seq": "VSAALSSVVSRTDSPSPTVL", "down_seq": "THENQTKPSISQISTTLPPT", "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": "NSHISTPNVNAL", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Leu", "evidence": [ { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" } ] }, { "type": "snv", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "256", "end_pos": "256" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q8NC54-1.51.51", "categories": [ "glycosylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q8NC54-1.53.53", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q8NC54-1.55.55", "categories": [ "glycosylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8NC54-1.75.75", "categories": [ "glycosylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q8NC54-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q8NC54-1.85.85", "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" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 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": "Q8NC54-1.75.75", "start_pos": 75, "end_pos": 75, "uniprot_canonical_ac": "Q8NC54-1", "length": 265, "uniprot_id": "KCT2_HUMAN", "protein_name": "Keratinocyte-associated transmembrane protein 2", "refseq_ac": "NP_064584", "refseq_name": "keratinocyte-associated transmembrane protein 2 precursor", "gene_name": "KCT2", "gene_names_uniprotkb": "KCT2; C5orf15; HTGN29", "gene_names_refseq": "C5orf15; HTGN29; KCT2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NC54", "url": "https://www.uniprot.org/uniprotkb/Q8NC54" } ], "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": "Q8NC54", "url": "https://www.uniprot.org/uniprotkb/Q8NC54", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "SPTVLNSHISTPNVNALTHE", "down_seq": "QTKPSISQISTTLPPTTSTK", "glycosylation": [ { "glytoucan_ac": "G73430PD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TDSPSPTVLNSHISTPNVNALTHENQTKPSISQISTTLPPTTSTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn75", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn75", "evidence": [ { "id": "Q8NC54", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8NC54#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" } ] }, { "type": "snv", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "256", "end_pos": "256" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8NC54-1.55.55", "categories": [ "glycosylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q8NC54-1.60.71", "categories": [ "glycosylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8NC54-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q8NC54-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8NC54-1.95.95", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8NC54-1.154.154", "start_pos": 154, "end_pos": 154, "uniprot_canonical_ac": "Q8NC54-1", "length": 265, "uniprot_id": "KCT2_HUMAN", "protein_name": "Keratinocyte-associated transmembrane protein 2", "refseq_ac": "NP_064584", "refseq_name": "keratinocyte-associated transmembrane protein 2 precursor", "gene_name": "KCT2", "gene_names_uniprotkb": "KCT2; C5orf15; HTGN29", "gene_names_refseq": "C5orf15; HTGN29; KCT2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NC54", "url": "https://www.uniprot.org/uniprotkb/Q8NC54" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs531987029", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs531987029", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs531987029", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs531987029", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs531987029", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs531987029", "database": "ExAC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SSPSTAKDTLDNGDYGEPDY", "down_seq": "WTTGPRDDDESDDTLEENRG", "snv": [ { "evidence": [ { "id": "rs531987029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs531987029" }, { "id": "rs531987029", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs531987029" }, { "id": "rs531987029", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs531987029" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DWT->NWT).", "chr_id": "5", "chr_pos": "133959700", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "D154", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" } ] }, { "type": "snv", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "256", "end_pos": "256" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q8NC54-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8NC54-1.165.165", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q8NC54-1.168.168", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8NC54-1.174.174", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NC54-1.163.163", "start_pos": 163, "end_pos": 163, "uniprot_canonical_ac": "Q8NC54-1", "length": 265, "uniprot_id": "KCT2_HUMAN", "protein_name": "Keratinocyte-associated transmembrane protein 2", "refseq_ac": "NP_064584", "refseq_name": "keratinocyte-associated transmembrane protein 2 precursor", "gene_name": "KCT2", "gene_names_uniprotkb": "KCT2; C5orf15; HTGN29", "gene_names_refseq": "C5orf15; HTGN29; KCT2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NC54", "url": "https://www.uniprot.org/uniprotkb/Q8NC54" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs763907370", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763907370", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs763907370", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763907370", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs763907370", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763907370#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs763907370", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763907370", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LDNGDYGEPDYDWTTGPRDD", "down_seq": "ESDDTLEENRGYMEIEQSVK", "snv": [ { "evidence": [ { "id": "rs763907370", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763907370" }, { "id": "rs763907370", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763907370" }, { "id": "rs763907370", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763907370#frequency_tab" }, { "id": "rs763907370", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763907370" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DES->NES).", "chr_id": "5", "chr_pos": "133959673", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D163", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" } ] }, { "type": "snv", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "256", "end_pos": "256" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q8NC54-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8NC54-1.165.165", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q8NC54-1.168.168", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8NC54-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q8NC54-1.181.181", "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": "Q8NC54-1.174.174", "start_pos": 174, "end_pos": 174, "uniprot_canonical_ac": "Q8NC54-1", "length": 265, "uniprot_id": "KCT2_HUMAN", "protein_name": "Keratinocyte-associated transmembrane protein 2", "refseq_ac": "NP_064584", "refseq_name": "keratinocyte-associated transmembrane protein 2 precursor", "gene_name": "KCT2", "gene_names_uniprotkb": "KCT2; C5orf15; HTGN29", "gene_names_refseq": "C5orf15; HTGN29; KCT2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NC54", "url": "https://www.uniprot.org/uniprotkb/Q8NC54" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1411812517", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1411812517", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1411812517", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1411812517#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1411812517", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1411812517", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "DWTTGPRDDDESDDTLEENR", "down_seq": "YMEIEQSVKSFKMPSSNIEE", "snv": [ { "evidence": [ { "id": "rs1411812517", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1411812517" }, { "id": "rs1411812517", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1411812517#frequency_tab" }, { "id": "rs1411812517", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1411812517" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRG->NRS).", "chr_id": "5", "chr_pos": "133959640", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G174", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" } ] }, { "type": "snv", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "256", "end_pos": "256" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8NC54-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q8NC54-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q8NC54-1.165.165", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q8NC54-1.168.168", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q8NC54-1.181.181", "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": "Q8NC54-1.221.221", "start_pos": 221, "end_pos": 221, "uniprot_canonical_ac": "Q8NC54-1", "length": 265, "uniprot_id": "KCT2_HUMAN", "protein_name": "Keratinocyte-associated transmembrane protein 2", "refseq_ac": "NP_064584", "refseq_name": "keratinocyte-associated transmembrane protein 2 precursor", "gene_name": "KCT2", "gene_names_uniprotkb": "KCT2; C5orf15; HTGN29", "gene_names_refseq": "C5orf15; HTGN29; KCT2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NC54", "url": "https://www.uniprot.org/uniprotkb/Q8NC54" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs544098036", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs544098036", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs544098036", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs544098036", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs544098036", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs544098036", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs544098036", "url": "http://gnomad.broadinstitute.org/awesome?query=rs544098036", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FHLIIFAFCIAVVYITYHNK", "down_seq": "KIFLLVQSRKWRDGLCSKTV", "snv": [ { "evidence": [ { "id": "rs544098036", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs544098036" }, { "id": "rs544098036", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs544098036" }, { "id": "rs544098036", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs544098036" }, { "id": "rs544098036", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs544098036" } ], "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": "5", "chr_pos": "133959497", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R221", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" } ] }, { "type": "snv", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "256", "end_pos": "256" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q8NC54-1.229.229", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q8NC54-1.240.240", "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": "Q8NC54-1.253.253", "start_pos": 253, "end_pos": 253, "uniprot_canonical_ac": "Q8NC54-1", "length": 265, "uniprot_id": "KCT2_HUMAN", "protein_name": "Keratinocyte-associated transmembrane protein 2", "refseq_ac": "NP_064584", "refseq_name": "keratinocyte-associated transmembrane protein 2 precursor", "gene_name": "KCT2", "gene_names_uniprotkb": "KCT2; C5orf15; HTGN29", "gene_names_refseq": "C5orf15; HTGN29; KCT2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NC54", "url": "https://www.uniprot.org/uniprotkb/Q8NC54" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NC54", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NC54", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "RDGLCSKTVEYHRLDQNVNE", "down_seq": "MPSLKITNDYIF", "snv": [ { "evidence": [ { "id": "Q8NC54", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NC54" } ], "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 (NEA->NET).", "chr_id": "5", "chr_pos": "133956900", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A253", "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": "181", "end_pos": "181" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" } ] }, { "type": "snv", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "256", "end_pos": "256" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q8NC54-1.240.240", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q8NC54-1.243.243", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8NC54-1.256.256", "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": "Q8NC54-1.77.77", "start_pos": 77, "end_pos": 77, "uniprot_canonical_ac": "Q8NC54-1", "length": 265, "uniprot_id": "KCT2_HUMAN", "protein_name": "Keratinocyte-associated transmembrane protein 2", "refseq_ac": "NP_064584", "refseq_name": "keratinocyte-associated transmembrane protein 2 precursor", "gene_name": "KCT2", "gene_names_uniprotkb": "KCT2; C5orf15; HTGN29", "gene_names_refseq": "C5orf15; HTGN29; KCT2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NC54", "url": "https://www.uniprot.org/uniprotkb/Q8NC54" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1269660299", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1269660299", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1269660299", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1269660299", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "TVLNSHISTPNVNALTHENQ", "down_seq": "KPSISQISTTLPPTTSTKKS", "snv": [ { "evidence": [ { "id": "rs1269660299", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1269660299" }, { "id": "rs1269660299", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1269660299" } ], "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 (NQT->NQI).", "chr_id": "5", "chr_pos": "133959930", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T77", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" } ] }, { "type": "snv", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "256", "end_pos": "256" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q8NC54-1.60.71", "categories": [ "glycosylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8NC54-1.75.75", "categories": [ "glycosylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q8NC54-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q8NC54-1.95.95", "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": "Q8NC54-1.85.85", "start_pos": 85, "end_pos": 85, "uniprot_canonical_ac": "Q8NC54-1", "length": 265, "uniprot_id": "KCT2_HUMAN", "protein_name": "Keratinocyte-associated transmembrane protein 2", "refseq_ac": "NP_064584", "refseq_name": "keratinocyte-associated transmembrane protein 2 precursor", "gene_name": "KCT2", "gene_names_uniprotkb": "KCT2; C5orf15; HTGN29", "gene_names_refseq": "C5orf15; HTGN29; KCT2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NC54", "url": "https://www.uniprot.org/uniprotkb/Q8NC54" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NC54", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NC54", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TPNVNALTHENQTKPSISQI", "down_seq": "TTLPPTTSTKKSGGASVVPH", "snv": [ { "evidence": [ { "id": "Q8NC54", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NC54" } ], "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 (STT->NTT).", "chr_id": "5", "chr_pos": "133959906", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S85", "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": "109", "end_pos": "109" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" } ] }, { "type": "snv", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "256", "end_pos": "256" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q8NC54-1.60.71", "categories": [ "glycosylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q8NC54-1.75.75", "categories": [ "glycosylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q8NC54-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q8NC54-1.95.95", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NC54-1.95.95", "start_pos": 95, "end_pos": 95, "uniprot_canonical_ac": "Q8NC54-1", "length": 265, "uniprot_id": "KCT2_HUMAN", "protein_name": "Keratinocyte-associated transmembrane protein 2", "refseq_ac": "NP_064584", "refseq_name": "keratinocyte-associated transmembrane protein 2 precursor", "gene_name": "KCT2", "gene_names_uniprotkb": "KCT2; C5orf15; HTGN29", "gene_names_refseq": "C5orf15; HTGN29; KCT2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NC54", "url": "https://www.uniprot.org/uniprotkb/Q8NC54" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NC54", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NC54", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "NQTKPSISQISTTLPPTTST", "down_seq": "KSGGASVVPHPSPTPLSQEE", "snv": [ { "evidence": [ { "id": "Q8NC54", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NC54" } ], "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 (KKS->NKS).", "chr_id": "5", "chr_pos": "133959875", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K95", "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": "109", "end_pos": "109" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" } ] }, { "type": "snv", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "256", "end_pos": "256" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8NC54-1.75.75", "categories": [ "glycosylation_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q8NC54-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q8NC54-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q8NC54-1.109.109", "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": "Q8NC54-1.165.165", "start_pos": 165, "end_pos": 165, "uniprot_canonical_ac": "Q8NC54-1", "length": 265, "uniprot_id": "KCT2_HUMAN", "protein_name": "Keratinocyte-associated transmembrane protein 2", "refseq_ac": "NP_064584", "refseq_name": "keratinocyte-associated transmembrane protein 2 precursor", "gene_name": "KCT2", "gene_names_uniprotkb": "KCT2; C5orf15; HTGN29", "gene_names_refseq": "C5orf15; HTGN29; KCT2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NC54", "url": "https://www.uniprot.org/uniprotkb/Q8NC54" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A comprehensive and non-prefractionation on the protein level approach for the human urinary proteome: touching phosphorylation in urine.", "journal": "Rapid communications in mass spectrometry : RCM", "date": "2010", "authors": "Li QR, Fan KX, Li RX, Dai J, Wu CC, Zhao SL, Wu JR, Shieh CH, Zeng R", "evidence": [ { "database": "iPTMnet", "id": "Q8NC54", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NC54" } ], "reference": [ { "type": "PubMed", "id": "20187088", "url": "https://glygen.org/publication/PubMed/20187088" } ] } ], "crossref": [ { "id": "Q8NC54", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NC54", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20187088", "url": "https://glygen.org/publication/PubMed/20187088", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NGDYGEPDYDWTTGPRDDDE", "down_seq": "DDTLEENRGYMEIEQSVKSF", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8NC54", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NC54" }, { "database": "PubMed", "id": "20187088", "url": "https://glygen.org/publication/PubMed/20187088" } ], "site_lbl": "Ser165" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" } ] }, { "type": "snv", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "256", "end_pos": "256" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q8NC54-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8NC54-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8NC54-1.168.168", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8NC54-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q8NC54-1.181.181", "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": "Q8NC54-1.168.168", "start_pos": 168, "end_pos": 168, "uniprot_canonical_ac": "Q8NC54-1", "length": 265, "uniprot_id": "KCT2_HUMAN", "protein_name": "Keratinocyte-associated transmembrane protein 2", "refseq_ac": "NP_064584", "refseq_name": "keratinocyte-associated transmembrane protein 2 precursor", "gene_name": "KCT2", "gene_names_uniprotkb": "KCT2; C5orf15; HTGN29", "gene_names_refseq": "C5orf15; HTGN29; KCT2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NC54", "url": "https://www.uniprot.org/uniprotkb/Q8NC54" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A comprehensive and non-prefractionation on the protein level approach for the human urinary proteome: touching phosphorylation in urine.", "journal": "Rapid communications in mass spectrometry : RCM", "date": "2010", "authors": "Li QR, Fan KX, Li RX, Dai J, Wu CC, Zhao SL, Wu JR, Shieh CH, Zeng R", "evidence": [ { "database": "iPTMnet", "id": "Q8NC54", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NC54" } ], "reference": [ { "type": "PubMed", "id": "20187088", "url": "https://glygen.org/publication/PubMed/20187088" } ] } ], "crossref": [ { "id": "Q8NC54", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NC54", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20187088", "url": "https://glygen.org/publication/PubMed/20187088", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "YGEPDYDWTTGPRDDDESDD", "down_seq": "LEENRGYMEIEQSVKSFKMP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8NC54", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NC54" }, { "database": "PubMed", "id": "20187088", "url": "https://glygen.org/publication/PubMed/20187088" } ], "site_lbl": "Thr168" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" } ] }, { "type": "snv", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "256", "end_pos": "256" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q8NC54-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q8NC54-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8NC54-1.165.165", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q8NC54-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8NC54-1.181.181", "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": "Q8NC54-1.229.229", "start_pos": 229, "end_pos": 229, "uniprot_canonical_ac": "Q8NC54-1", "length": 265, "uniprot_id": "KCT2_HUMAN", "protein_name": "Keratinocyte-associated transmembrane protein 2", "refseq_ac": "NP_064584", "refseq_name": "keratinocyte-associated transmembrane protein 2 precursor", "gene_name": "KCT2", "gene_names_uniprotkb": "KCT2; C5orf15; HTGN29", "gene_names_refseq": "C5orf15; HTGN29; KCT2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NC54", "url": "https://www.uniprot.org/uniprotkb/Q8NC54" } ], "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": "Q8NC54", "url": "https://www.uniprot.org/uniprotkb/Q8NC54" }, { "database": "iPTMnet", "id": "Q8NC54", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NC54" } ], "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": "Q8NC54", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NC54" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8NC54", "url": "https://www.uniprot.org/uniprotkb/Q8NC54", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8NC54", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NC54", "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": "CIAVVYITYHNKRKIFLLVQ", "down_seq": "RKWRDGLCSKTVEYHRLDQN", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8NC54", "url": "https://www.uniprot.org/uniprotkb/Q8NC54" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8NC54", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NC54" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser229" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" } ] }, { "type": "snv", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "256", "end_pos": "256" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q8NC54-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8NC54-1.240.240", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q8NC54-1.243.243", "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": "Q8NC54-1.240.240", "start_pos": 240, "end_pos": 240, "uniprot_canonical_ac": "Q8NC54-1", "length": 265, "uniprot_id": "KCT2_HUMAN", "protein_name": "Keratinocyte-associated transmembrane protein 2", "refseq_ac": "NP_064584", "refseq_name": "keratinocyte-associated transmembrane protein 2 precursor", "gene_name": "KCT2", "gene_names_uniprotkb": "KCT2; C5orf15; HTGN29", "gene_names_refseq": "C5orf15; HTGN29; KCT2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NC54", "url": "https://www.uniprot.org/uniprotkb/Q8NC54" } ], "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": "Q8NC54", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NC54" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "Q8NC54", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NC54", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KRKIFLLVQSRKWRDGLCSK", "down_seq": "VEYHRLDQNVNEAMPSLKIT", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8NC54", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NC54" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Thr240" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" } ] }, { "type": "snv", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "256", "end_pos": "256" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8NC54-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q8NC54-1.229.229", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8NC54-1.243.243", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8NC54-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q8NC54-1.256.256", "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": "Q8NC54-1.243.243", "start_pos": 243, "end_pos": 243, "uniprot_canonical_ac": "Q8NC54-1", "length": 265, "uniprot_id": "KCT2_HUMAN", "protein_name": "Keratinocyte-associated transmembrane protein 2", "refseq_ac": "NP_064584", "refseq_name": "keratinocyte-associated transmembrane protein 2 precursor", "gene_name": "KCT2", "gene_names_uniprotkb": "KCT2; C5orf15; HTGN29", "gene_names_refseq": "C5orf15; HTGN29; KCT2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NC54", "url": "https://www.uniprot.org/uniprotkb/Q8NC54" } ], "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": "Q8NC54", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NC54" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "Q8NC54", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NC54", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "IFLLVQSRKWRDGLCSKTVE", "down_seq": "HRLDQNVNEAMPSLKITNDY", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8NC54", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NC54" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Tyr243" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" } ] }, { "type": "snv", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "256", "end_pos": "256" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q8NC54-1.229.229", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8NC54-1.240.240", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q8NC54-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8NC54-1.256.256", "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": "Q8NC54-1.256.256", "start_pos": 256, "end_pos": 256, "uniprot_canonical_ac": "Q8NC54-1", "length": 265, "uniprot_id": "KCT2_HUMAN", "protein_name": "Keratinocyte-associated transmembrane protein 2", "refseq_ac": "NP_064584", "refseq_name": "keratinocyte-associated transmembrane protein 2 precursor", "gene_name": "KCT2", "gene_names_uniprotkb": "KCT2; C5orf15; HTGN29", "gene_names_refseq": "C5orf15; HTGN29; KCT2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NC54", "url": "https://www.uniprot.org/uniprotkb/Q8NC54" } ], "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": "Q8NC54", "url": "https://www.uniprot.org/uniprotkb/Q8NC54" }, { "database": "iPTMnet", "id": "Q8NC54", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NC54" } ], "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": "Q8NC54", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NC54" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "Q8NC54", "url": "https://www.uniprot.org/uniprotkb/Q8NC54", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8NC54", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NC54", "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": "LCSKTVEYHRLDQNVNEAMP", "down_seq": "LKITNDYIF", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8NC54", "url": "https://www.uniprot.org/uniprotkb/Q8NC54" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8NC54", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NC54" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser256" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "71" }, { "start_pos": "75", "end_pos": "75" } ] }, { "type": "snv", "site_list": [ { "start_pos": "154", "end_pos": "154" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "95", "end_pos": "95" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "256", "end_pos": "256" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q8NC54-1.240.240", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q8NC54-1.243.243", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8NC54-1.253.253", "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": "Q8TBQ9-1.35.35", "start_pos": 35, "end_pos": 35, "uniprot_canonical_ac": "Q8TBQ9-1", "length": 72, "uniprot_id": "KISHA_HUMAN", "protein_name": "Protein kish-A", "refseq_ac": "NP_777569", "refseq_name": "protein kish-A precursor", "gene_name": "TMEM167A", "gene_names_uniprotkb": "TMEM167A; TMEM167", "gene_names_refseq": "TMEM167A; TMEM167; kish", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TBQ9", "url": "https://www.uniprot.org/uniprotkb/Q8TBQ9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TBQ9", "url": "https://www.uniprot.org/uniprotkb/Q8TBQ9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs1416719892", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1416719892", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1416719892", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1416719892", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LLLICTCAYIRSLAPSLLDR", "down_seq": "KTGLLGIFWKCARIGERKSP", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn35", "evidence": [ { "id": "Q8TBQ9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8TBQ9#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs1416719892", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1416719892" }, { "id": "rs1416719892", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1416719892" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NKT->SKT).", "chr_id": "5", "chr_pos": "83065017", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N35", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "35", "end_pos": "35" } ] }, { "type": "snv", "site_list": [ { "start_pos": "35", "end_pos": "35" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TBQ9-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q8TBQ9-1", "length": 72, "uniprot_id": "KISHA_HUMAN", "protein_name": "Protein kish-A", "refseq_ac": "NP_777569", "refseq_name": "protein kish-A precursor", "gene_name": "TMEM167A", "gene_names_uniprotkb": "TMEM167A; TMEM167", "gene_names_refseq": "TMEM167A; TMEM167; kish", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TBQ9", "url": "https://www.uniprot.org/uniprotkb/Q8TBQ9" } ], "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": "Q8TBQ9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8TBQ9" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "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": "Q8TBQ9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8TBQ9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] } ], "crossref": [ { "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8TBQ9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8TBQ9", "database": "O-GlcNAc Database", "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": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "Q8TBQ9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8TBQ9" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "35", "end_pos": "35" } ] }, { "type": "snv", "site_list": [ { "start_pos": "35", "end_pos": "35" } ] } ], "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": "Q96AC6-1.149.149", "start_pos": 149, "end_pos": 149, "uniprot_canonical_ac": "Q96AC6-1", "length": 838, "uniprot_id": "KIFC2_HUMAN", "protein_name": "Kinesin-like protein KIFC2", "refseq_ac": "NP_665697", "refseq_name": "kinesin-like protein KIFC2 isoform 1", "gene_name": "KIFC2", "gene_names_uniprotkb": "KIFC2", "gene_names_refseq": "KIFC2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AC6", "url": "https://www.uniprot.org/uniprotkb/Q96AC6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96AC6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AC6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "AWLRSPRGRQALLQGTQPAP", "down_seq": "VRPPSPDGSTSQEESPSHFT", "snv": [ { "evidence": [ { "id": "Q96AC6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AC6" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "144467317", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R149", "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": "149", "end_pos": "149" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "609", "end_pos": "609" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96AC6-1.442.442", "start_pos": 442, "end_pos": 442, "uniprot_canonical_ac": "Q96AC6-1", "length": 838, "uniprot_id": "KIFC2_HUMAN", "protein_name": "Kinesin-like protein KIFC2", "refseq_ac": "NP_665697", "refseq_name": "kinesin-like protein KIFC2 isoform 1", "gene_name": "KIFC2", "gene_names_uniprotkb": "KIFC2", "gene_names_refseq": "KIFC2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AC6", "url": "https://www.uniprot.org/uniprotkb/Q96AC6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96AC6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AC6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SSLVSVEPGPGGTVTTCYRG", "down_seq": "HRRFRLDWVFPPDASQEEVF", "snv": [ { "evidence": [ { "id": "Q96AC6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AC6" } ], "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": "8", "chr_pos": "144469591", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R442", "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: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" } ] }, { "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": "149", "end_pos": "149" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "609", "end_pos": "609" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96AC6-1.567.567", "start_pos": 567, "end_pos": 567, "uniprot_canonical_ac": "Q96AC6-1", "length": 838, "uniprot_id": "KIFC2_HUMAN", "protein_name": "Kinesin-like protein KIFC2", "refseq_ac": "NP_665697", "refseq_name": "kinesin-like protein KIFC2 isoform 1", "gene_name": "KIFC2", "gene_names_uniprotkb": "KIFC2", "gene_names_refseq": "KIFC2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AC6", "url": "https://www.uniprot.org/uniprotkb/Q96AC6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96AC6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AC6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "LAVRQGPEGQGGIQVAGLTH", "down_seq": "DVPNLETLHQMLKLGRSNRA", "snv": [ { "evidence": [ { "id": "Q96AC6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AC6" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "W", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "8", "chr_pos": "144472452", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "W567", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "609", "end_pos": "609" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_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": "Q96AC6-1.609.609", "start_pos": 609, "end_pos": 609, "uniprot_canonical_ac": "Q96AC6-1", "length": 838, "uniprot_id": "KIFC2_HUMAN", "protein_name": "Kinesin-like protein KIFC2", "refseq_ac": "NP_665697", "refseq_name": "kinesin-like protein KIFC2 isoform 1", "gene_name": "KIFC2", "gene_names_uniprotkb": "KIFC2", "gene_names_refseq": "KIFC2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96AC6", "url": "https://www.uniprot.org/uniprotkb/Q96AC6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96AC6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AC6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "AATAMNQRSSRSHALVTLTL", "down_seq": "AASPPRAPGTAGTLHLVDLA", "snv": [ { "evidence": [ { "id": "Q96AC6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96AC6" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "144472670", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R609", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "567", "end_pos": "567" }, { "start_pos": "609", "end_pos": "609" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H3M0-1.156.156", "start_pos": 156, "end_pos": 156, "uniprot_canonical_ac": "Q9H3M0-1", "length": 494, "uniprot_id": "KCNF1_HUMAN", "protein_name": "Voltage-gated potassium channel regulatory subunit KCNF1", "refseq_ac": "NP_002227", "refseq_name": "voltage-gated potassium channel regulatory subunit KCNF1", "gene_name": "KCNF1", "gene_names_uniprotkb": "KCNF1", "gene_names_refseq": "IK8; KCNF1; KCNF; KV5.1; kH1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H3M0", "url": "https://www.uniprot.org/uniprotkb/Q9H3M0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H3M0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H3M0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "EELEEIARRVQLILDDLGVD", "down_seq": "AEGRWRRCQKCVWKFLEKPE", "snv": [ { "evidence": [ { "id": "Q9H3M0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H3M0" } ], "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": "2", "chr_pos": "10912892", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A156", "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": "156", "end_pos": "156" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9H3M0-1.158.158", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H3M0-1.158.158", "start_pos": 158, "end_pos": 158, "uniprot_canonical_ac": "Q9H3M0-1", "length": 494, "uniprot_id": "KCNF1_HUMAN", "protein_name": "Voltage-gated potassium channel regulatory subunit KCNF1", "refseq_ac": "NP_002227", "refseq_name": "voltage-gated potassium channel regulatory subunit KCNF1", "gene_name": "KCNF1", "gene_names_uniprotkb": "KCNF1", "gene_names_refseq": "IK8; KCNF1; KCNF; KV5.1; kH1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H3M0", "url": "https://www.uniprot.org/uniprotkb/Q9H3M0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H3M0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H3M0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "LEEIARRVQLILDDLGVDAA", "down_seq": "GRWRRCQKCVWKFLEKPESS", "snv": [ { "evidence": [ { "id": "Q9H3M0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H3M0" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "2", "chr_pos": "10912898", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E158", "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:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9H3M0-1.156.156", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H3M0-1.206.206", "start_pos": 206, "end_pos": 206, "uniprot_canonical_ac": "Q9H3M0-1", "length": 494, "uniprot_id": "KCNF1_HUMAN", "protein_name": "Voltage-gated potassium channel regulatory subunit KCNF1", "refseq_ac": "NP_002227", "refseq_name": "voltage-gated potassium channel regulatory subunit KCNF1", "gene_name": "KCNF1", "gene_names_uniprotkb": "KCNF1", "gene_names_refseq": "IK8; KCNF1; KCNF; KV5.1; kH1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H3M0", "url": "https://www.uniprot.org/uniprotkb/Q9H3M0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H3M0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H3M0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "VLSFLLILVSSVVMCMGTIP", "down_seq": "LQVLDAEGNRVEHPTLENVE", "snv": [ { "evidence": [ { "id": "Q9H3M0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H3M0" } ], "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": "2", "chr_pos": "10913042", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E206", "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": "156", "end_pos": "156" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q9H3M0-1.213.213", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H3M0-1.213.213", "start_pos": 213, "end_pos": 213, "uniprot_canonical_ac": "Q9H3M0-1", "length": 494, "uniprot_id": "KCNF1_HUMAN", "protein_name": "Voltage-gated potassium channel regulatory subunit KCNF1", "refseq_ac": "NP_002227", "refseq_name": "voltage-gated potassium channel regulatory subunit KCNF1", "gene_name": "KCNF1", "gene_names_uniprotkb": "KCNF1", "gene_names_refseq": "IK8; KCNF1; KCNF; KV5.1; kH1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H3M0", "url": "https://www.uniprot.org/uniprotkb/Q9H3M0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H3M0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H3M0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "LVSSVVMCMGTIPELQVLDA", "down_seq": "GNRVEHPTLENVETACIGWF", "snv": [ { "evidence": [ { "id": "Q9H3M0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H3M0" } ], "glycoeffect": [], "subjects_tested": "4484", "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": "10913063", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E213", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/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": "156", "end_pos": "156" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9H3M0-1.206.206", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H3M0-1.234.234", "start_pos": 234, "end_pos": 234, "uniprot_canonical_ac": "Q9H3M0-1", "length": 494, "uniprot_id": "KCNF1_HUMAN", "protein_name": "Voltage-gated potassium channel regulatory subunit KCNF1", "refseq_ac": "NP_002227", "refseq_name": "voltage-gated potassium channel regulatory subunit KCNF1", "gene_name": "KCNF1", "gene_names_uniprotkb": "KCNF1", "gene_names_refseq": "IK8; KCNF1; KCNF; KV5.1; kH1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H3M0", "url": "https://www.uniprot.org/uniprotkb/Q9H3M0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H3M0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H3M0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GNRVEHPTLENVETACIGWF", "down_seq": "LEYLLRLFSSPNKLHFALSF", "snv": [ { "evidence": [ { "id": "Q9H3M0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H3M0" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "10913127", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T234", "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: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": "156", "end_pos": "156" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H3M0-1.299.299", "start_pos": 299, "end_pos": 299, "uniprot_canonical_ac": "Q9H3M0-1", "length": 494, "uniprot_id": "KCNF1_HUMAN", "protein_name": "Voltage-gated potassium channel regulatory subunit KCNF1", "refseq_ac": "NP_002227", "refseq_name": "voltage-gated potassium channel regulatory subunit KCNF1", "gene_name": "KCNF1", "gene_names_uniprotkb": "KCNF1", "gene_names_refseq": "IK8; KCNF1; KCNF; KV5.1; kH1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H3M0", "url": "https://www.uniprot.org/uniprotkb/Q9H3M0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H3M0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H3M0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "MMELTNVQQAVQALRIMRIA", "down_seq": "IFKLARHSSGLQTLTYALKR", "snv": [ { "evidence": [ { "id": "Q9H3M0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H3M0" } ], "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 (3).", "chr_id": "2", "chr_pos": "10913321", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R299", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "upstream", "id": "Q9H3M0-1.319.319", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H3M0-1.319.319", "start_pos": 319, "end_pos": 319, "uniprot_canonical_ac": "Q9H3M0-1", "length": 494, "uniprot_id": "KCNF1_HUMAN", "protein_name": "Voltage-gated potassium channel regulatory subunit KCNF1", "refseq_ac": "NP_002227", "refseq_name": "voltage-gated potassium channel regulatory subunit KCNF1", "gene_name": "KCNF1", "gene_names_uniprotkb": "KCNF1", "gene_names_refseq": "IK8; KCNF1; KCNF; KV5.1; kH1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H3M0", "url": "https://www.uniprot.org/uniprotkb/Q9H3M0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H3M0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H3M0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RIFKLARHSSGLQTLTYALK", "down_seq": "SFKELGLLLMYLAVGIFVFS", "snv": [ { "evidence": [ { "id": "Q9H3M0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H3M0" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "10913382", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R319", "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": "156", "end_pos": "156" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9H3M0-1.299.299", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H3M0-1.371.371", "start_pos": 371, "end_pos": 371, "uniprot_canonical_ac": "Q9H3M0-1", "length": 494, "uniprot_id": "KCNF1_HUMAN", "protein_name": "Voltage-gated potassium channel regulatory subunit KCNF1", "refseq_ac": "NP_002227", "refseq_name": "voltage-gated potassium channel regulatory subunit KCNF1", "gene_name": "KCNF1", "gene_names_uniprotkb": "KCNF1", "gene_names_refseq": "IK8; KCNF1; KCNF; KV5.1; kH1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H3M0", "url": "https://www.uniprot.org/uniprotkb/Q9H3M0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H3M0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H3M0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "ETLFKSIPQSFWWAIITMTT", "down_seq": "GYGDIYPKTTLGKLNAAISF", "snv": [ { "evidence": [ { "id": "Q9H3M0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H3M0" } ], "glycoeffect": [], "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "10913537", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V371", "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: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": "snv", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "upstream", "id": "Q9H3M0-1.388.388", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H3M0-1.388.388", "start_pos": 388, "end_pos": 388, "uniprot_canonical_ac": "Q9H3M0-1", "length": 494, "uniprot_id": "KCNF1_HUMAN", "protein_name": "Voltage-gated potassium channel regulatory subunit KCNF1", "refseq_ac": "NP_002227", "refseq_name": "voltage-gated potassium channel regulatory subunit KCNF1", "gene_name": "KCNF1", "gene_names_uniprotkb": "KCNF1", "gene_names_refseq": "IK8; KCNF1; KCNF; KV5.1; kH1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H3M0", "url": "https://www.uniprot.org/uniprotkb/Q9H3M0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H3M0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H3M0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "MTTVGYGDIYPKTTLGKLNA", "down_seq": "ISFLCGVIAIALPIHPIINN", "snv": [ { "evidence": [ { "id": "Q9H3M0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H3M0" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "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": "2", "chr_pos": "10913588", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A388", "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": "snv", "site_list": [ { "start_pos": "156", "end_pos": "156" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9H3M0-1.371.371", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H3M0-1.417.417", "start_pos": 417, "end_pos": 417, "uniprot_canonical_ac": "Q9H3M0-1", "length": 494, "uniprot_id": "KCNF1_HUMAN", "protein_name": "Voltage-gated potassium channel regulatory subunit KCNF1", "refseq_ac": "NP_002227", "refseq_name": "voltage-gated potassium channel regulatory subunit KCNF1", "gene_name": "KCNF1", "gene_names_uniprotkb": "KCNF1", "gene_names_refseq": "IK8; KCNF1; KCNF; KV5.1; kH1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H3M0", "url": "https://www.uniprot.org/uniprotkb/Q9H3M0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H3M0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H3M0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "AIALPIHPIINNFVRYYNKQ", "down_seq": "VLETAAKHELELMELNSSSG", "snv": [ { "evidence": [ { "id": "Q9H3M0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H3M0" } ], "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 (5).", "chr_id": "2", "chr_pos": "10913676", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R417", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/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: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": "156", "end_pos": "156" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H3M0-1.91.91", "start_pos": 91, "end_pos": 91, "uniprot_canonical_ac": "Q9H3M0-1", "length": 494, "uniprot_id": "KCNF1_HUMAN", "protein_name": "Voltage-gated potassium channel regulatory subunit KCNF1", "refseq_ac": "NP_002227", "refseq_name": "voltage-gated potassium channel regulatory subunit KCNF1", "gene_name": "KCNF1", "gene_names_uniprotkb": "KCNF1", "gene_names_refseq": "IK8; KCNF1; KCNF; KV5.1; kH1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H3M0", "url": "https://www.uniprot.org/uniprotkb/Q9H3M0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H3M0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H3M0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "DPGKREFYFDRDPDAFKCVI", "down_seq": "VYYFGEVHMKKGICPICFKN", "snv": [ { "evidence": [ { "id": "Q9H3M0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H3M0" } ], "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": "10912697", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E91", "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": "156", "end_pos": "156" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Synthesis of Na2S2O4 mediated cleavable affinity tag for labeling of O-GlcNAc modified proteins via azide-alkyne cycloaddition.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2021", "authors": "Wang J, Dou B, Zheng L, Cao W, Zeng X, Wen Y, Ma J, Li X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9NRX4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NRX4" } ], "reference": [ { "type": "PubMed", "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054" } ] }, { "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": "Q9NRX4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NRX4" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9NRX4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NRX4" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9NRX4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NRX4" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] } ], "crossref": [ { "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NRX4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NRX4", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "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": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "Q9NRX4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NRX4" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NRX4-1.102.102", "start_pos": 102, "end_pos": 102, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mutational study of human phosphohistidine phosphatase: effect on enzymatic activity.", "journal": "Biochemical and biophysical research communications", "date": "2005", "authors": "Ma R, Kanders E, Sundh UB, Geng M, Ek P, Zetterqvist O, Li JP", "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "reference": [ { "type": "PubMed", "id": "16219293", "url": "https://glygen.org/publication/PubMed/16219293" } ] }, { "title": "Solution structure and catalytic mechanism of human protein histidine phosphatase 1.", "journal": "The Biochemical journal", "date": "2009", "authors": "Gong W, Li Y, Cui G, Hu J, Fang H, Jin C, Xia B", "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "reference": [ { "type": "PubMed", "id": "18991813", "url": "https://glygen.org/publication/PubMed/18991813" } ] } ], "crossref": [ { "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "16219293", "url": "https://glygen.org/publication/PubMed/16219293", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18991813", "url": "https://glygen.org/publication/PubMed/18991813", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs1259915506", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1259915506", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1259915506", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1259915506#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1259915506", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1259915506", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "QSQDKKIHVYGYSMAYGPAQ", "down_seq": "AISTEKIKAKYPDYEVTWAN", "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Decreased affinity for substrate and slightly reduced catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" }, { "database": "PubMed", "id": "16219293", "url": "https://glygen.org/publication/PubMed/16219293" }, { "database": "PubMed", "id": "18991813", "url": "https://glygen.org/publication/PubMed/18991813" } ] } ], "snv": [ { "evidence": [ { "id": "rs1259915506", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1259915506" }, { "id": "rs1259915506", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1259915506#frequency_tab" }, { "id": "rs1259915506", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1259915506" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850773", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H102", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "mutagenesis_flag", "snv_flag" ], "glycosylation": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.122.122", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "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": "Q9NRX4-1.21.21", "start_pos": 21, "end_pos": 21, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Solution structure and catalytic mechanism of human protein histidine phosphatase 1.", "journal": "The Biochemical journal", "date": "2009", "authors": "Gong W, Li Y, Cui G, Hu J, Fang H, Jin C, Xia B", "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "reference": [ { "type": "PubMed", "id": "18991813", "url": "https://glygen.org/publication/PubMed/18991813" } ] } ], "crossref": [ { "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18991813", "url": "https://glygen.org/publication/PubMed/18991813", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs1848847090", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848847090", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1848847090", "url": "https://www.ensembl.org/id/rs1848847090", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1314941224", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1314941224", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1314941224", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1314941224", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "MAVADLALIPDVDIDSDGVF", "down_seq": "YVLIRVHSAPRSGAPAAESK", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Decreased affinity for substrate and strongly reduced catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" }, { "database": "PubMed", "id": "18991813", "url": "https://glygen.org/publication/PubMed/18991813" } ] } ], "snv": [ { "evidence": [ { "id": "rs1848847090", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848847090" }, { "id": "rs1848847090", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1848847090" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849491", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K21", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1314941224", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1314941224" }, { "id": "rs1314941224", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1314941224" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849492", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K21", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "mutagenesis_flag", "snv_flag" ], "glycosylation": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.39.39", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "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": 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": "Q9NRX4-1.45.45", "start_pos": 45, "end_pos": 45, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mutational study of human phosphohistidine phosphatase: effect on enzymatic activity.", "journal": "Biochemical and biophysical research communications", "date": "2005", "authors": "Ma R, Kanders E, Sundh UB, Geng M, Ek P, Zetterqvist O, Li JP", "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "reference": [ { "type": "PubMed", "id": "16219293", "url": "https://glygen.org/publication/PubMed/16219293" } ] }, { "title": "Solution structure and catalytic mechanism of human protein histidine phosphatase 1.", "journal": "The Biochemical journal", "date": "2009", "authors": "Gong W, Li Y, Cui G, Hu J, Fang H, Jin C, Xia B", "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "reference": [ { "type": "PubMed", "id": "18991813", "url": "https://glygen.org/publication/PubMed/18991813" } ] } ], "crossref": [ { "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "16219293", "url": "https://glygen.org/publication/PubMed/16219293", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18991813", "url": "https://glygen.org/publication/PubMed/18991813", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs542079039", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542079039", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs542079039", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs542079039", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs542079039", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542079039", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs542079039", "url": "http://gnomad.broadinstitute.org/awesome?query=rs542079039", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs2491090425", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2491090425", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "IRVHSAPRSGAPAAESKEIV", "down_seq": "GYKWAEYHADIYDKVSGDMQ", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Slightly decreased affinity for substrate, but no effect on catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" }, { "database": "PubMed", "id": "16219293", "url": "https://glygen.org/publication/PubMed/16219293" }, { "database": "PubMed", "id": "18991813", "url": "https://glygen.org/publication/PubMed/18991813" } ] } ], "snv": [ { "evidence": [ { "id": "rs542079039", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542079039" }, { "id": "rs542079039", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs542079039" }, { "id": "rs542079039", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542079039" }, { "id": "rs542079039", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs542079039" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849563", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R45", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2491090425", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2491090425" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849564", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R45", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs542079039", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542079039" }, { "id": "rs542079039", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs542079039" }, { "id": "rs542079039", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542079039" }, { "id": "rs542079039", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs542079039" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849563", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R45", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "mutagenesis_flag", "snv_flag" ], "glycosylation": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9NRX4-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "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": 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": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NRX4-1.53.53", "start_pos": 53, "end_pos": 53, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mutational study of human phosphohistidine phosphatase: effect on enzymatic activity.", "journal": "Biochemical and biophysical research communications", "date": "2005", "authors": "Ma R, Kanders E, Sundh UB, Geng M, Ek P, Zetterqvist O, Li JP", "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "reference": [ { "type": "PubMed", "id": "16219293", "url": "https://glygen.org/publication/PubMed/16219293" } ] }, { "title": "Solution structure and catalytic mechanism of human protein histidine phosphatase 1.", "journal": "The Biochemical journal", "date": "2009", "authors": "Gong W, Li Y, Cui G, Hu J, Fang H, Jin C, Xia B", "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "reference": [ { "type": "PubMed", "id": "18991813", "url": "https://glygen.org/publication/PubMed/18991813" } ] } ], "crossref": [ { "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "16219293", "url": "https://glygen.org/publication/PubMed/16219293", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18991813", "url": "https://glygen.org/publication/PubMed/18991813", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs753087097", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753087097", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs753087097", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753087097", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs753087097", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753087097", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "SGAPAAESKEIVRGYKWAEY", "down_seq": "ADIYDKVSGDMQKQGCDCEC", "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" }, { "database": "PubMed", "id": "16219293", "url": "https://glygen.org/publication/PubMed/16219293" }, { "database": "PubMed", "id": "18991813", "url": "https://glygen.org/publication/PubMed/18991813" } ] } ], "snv": [ { "evidence": [ { "id": "rs753087097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753087097" }, { "id": "rs753087097", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753087097" }, { "id": "rs753087097", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753087097" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849587", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H53", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "mutagenesis_flag", "snv_flag" ], "glycosylation": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9NRX4-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "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": "Q9NRX4-1.78.78", "start_pos": 78, "end_pos": 78, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mutational study of human phosphohistidine phosphatase: effect on enzymatic activity.", "journal": "Biochemical and biophysical research communications", "date": "2005", "authors": "Ma R, Kanders E, Sundh UB, Geng M, Ek P, Zetterqvist O, Li JP", "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "reference": [ { "type": "PubMed", "id": "16219293", "url": "https://glygen.org/publication/PubMed/16219293" } ] }, { "title": "Solution structure and catalytic mechanism of human protein histidine phosphatase 1.", "journal": "The Biochemical journal", "date": "2009", "authors": "Gong W, Li Y, Cui G, Hu J, Fang H, Jin C, Xia B", "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "reference": [ { "type": "PubMed", "id": "18991813", "url": "https://glygen.org/publication/PubMed/18991813" } ] } ], "crossref": [ { "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "16219293", "url": "https://glygen.org/publication/PubMed/16219293", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18991813", "url": "https://glygen.org/publication/PubMed/18991813", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs779726603", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779726603", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs779726603", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779726603", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs779726603", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779726603", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9NRX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1848868603", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848868603", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1848868603", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1848868603#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1848868603", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1848868603", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "DKVSGDMQKQGCDCECLGGG", "down_seq": "ISHQSQDKKIHVYGYSMAYG", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Decreased affinity for substrate and reduced catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" }, { "database": "PubMed", "id": "16219293", "url": "https://glygen.org/publication/PubMed/16219293" }, { "database": "PubMed", "id": "18991813", "url": "https://glygen.org/publication/PubMed/18991813" } ] } ], "snv": [ { "evidence": [ { "id": "rs779726603", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779726603" }, { "id": "rs779726603", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779726603" }, { "id": "rs779726603", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779726603" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850084", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R78", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779726603", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779726603" }, { "id": "rs779726603", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779726603" }, { "id": "rs779726603", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779726603" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850084", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R78", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" }, { "id": "rs1848868603", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848868603" }, { "id": "rs1848868603", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1848868603#frequency_tab" }, { "id": "rs1848868603", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1848868603" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fructose metabolism).", "chr_id": "9", "chr_pos": "136850085", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R78", "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" ] }, { "evidence": [ { "id": "rs1848868603", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848868603" }, { "id": "rs1848868603", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1848868603#frequency_tab" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850085", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R78", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "mutagenesis_flag", "snv_flag" ], "glycosylation": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "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": 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": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NRX4-1.94.94", "start_pos": 94, "end_pos": 94, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs778752180", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778752180", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs778752180", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778752180", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs778752180", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778752180#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs778752180", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778752180", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs754657762", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754657762", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs754657762", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754657762", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs754657762", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754657762", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LGGGRISHQSQDKKIHVYGY", "down_seq": "MAYGPAQHAISTEKIKAKYP", "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Decreased affinity for substrate and strongly reduced catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ] } ], "snv": [ { "evidence": [ { "id": "rs778752180", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778752180" }, { "id": "rs778752180", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778752180" }, { "id": "rs778752180", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778752180#frequency_tab" }, { "id": "rs778752180", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778752180" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850133", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S94", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754657762", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754657762" }, { "id": "rs754657762", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754657762" }, { "id": "rs754657762", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754657762" } ], "glycoeffect": [], "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850132", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S94", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778752180", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778752180" }, { "id": "rs778752180", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778752180" }, { "id": "rs778752180", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778752180#frequency_tab" }, { "id": "rs778752180", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778752180" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850133", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S94", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "mutagenesis_flag", "snv_flag" ], "glycosylation": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.114.114", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "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": 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": "Q9NRX4-1.100.100", "start_pos": 100, "end_pos": 100, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1243059558", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1243059558", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1243059558", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1243059558", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "SHQSQDKKIHVYGYSMAYGP", "down_seq": "QHAISTEKIKAKYPDYEVTW", "snv": [ { "evidence": [ { "id": "rs1243059558", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1243059558" }, { "id": "rs1243059558", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1243059558" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850767", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A100", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.120.120", "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": "Q9NRX4-1.101.101", "start_pos": 101, "end_pos": 101, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs984090533", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs984090533", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs984090533", "url": "https://www.ncbi.nlm.nih.gov/snp/rs984090533#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs984090533", "url": "http://gnomad.broadinstitute.org/awesome?query=rs984090533", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs909153219", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs909153219", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs909153219", "url": "https://www.ensembl.org/id/rs909153219", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "HQSQDKKIHVYGYSMAYGPA", "down_seq": "HAISTEKIKAKYPDYEVTWA", "snv": [ { "evidence": [ { "id": "rs984090533", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs984090533" }, { "id": "rs984090533", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs984090533#frequency_tab" }, { "id": "rs984090533", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs984090533" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850770", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q101", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs984090533", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs984090533" }, { "id": "rs984090533", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs984090533#frequency_tab" }, { "id": "rs984090533", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs984090533" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850770", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q101", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs909153219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs909153219" }, { "id": "rs909153219", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs909153219" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850771", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q101", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs909153219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs909153219" }, { "id": "rs909153219", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs909153219" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850771", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q101", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.121.121", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q9NRX4-1.103.103", "start_pos": 103, "end_pos": 103, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs371197839", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371197839", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs371197839", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371197839", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs371197839", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371197839#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs371197839", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371197839", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9NRX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs371197839", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs371197839", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "SQDKKIHVYGYSMAYGPAQH", "down_seq": "ISTEKIKAKYPDYEVTWAND", "snv": [ { "evidence": [ { "id": "rs371197839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371197839" }, { "id": "rs371197839", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371197839" }, { "id": "rs371197839", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371197839#frequency_tab" }, { "id": "rs371197839", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371197839" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850776", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A103", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs371197839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371197839" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850776", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A103", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" }, { "id": "rs371197839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371197839" }, { "id": "rs371197839", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371197839" }, { "id": "rs371197839", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371197839#frequency_tab" }, { "id": "rs371197839", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371197839" }, { "id": "rs371197839", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs371197839" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fructose metabolism).", "chr_id": "9", "chr_pos": "136850776", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A103", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fructose metabolism).", "chr_id": "9", "chr_pos": "136850777", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A103", "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": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.123.123", "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": 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": "Q9NRX4-1.104.104", "start_pos": 104, "end_pos": 104, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1848897289", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848897289", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1848897289", "url": "https://www.ensembl.org/id/rs1848897289", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "QDKKIHVYGYSMAYGPAQHA", "down_seq": "STEKIKAKYPDYEVTWANDG", "snv": [ { "evidence": [ { "id": "rs1848897289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848897289" }, { "id": "rs1848897289", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1848897289" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850779", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I104", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.124.124", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.105.105", "start_pos": 105, "end_pos": 105, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2131227317", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2131227317", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2131227317", "url": "https://www.ensembl.org/id/rs2131227317", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DKKIHVYGYSMAYGPAQHAI", "down_seq": "TEKIKAKYPDYEVTWANDGY", "snv": [ { "evidence": [ { "id": "rs2131227317", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2131227317" }, { "id": "rs2131227317", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2131227317" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850782", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S105", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.125.125", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.106.106", "start_pos": 106, "end_pos": 106, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs375578409", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375578409", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs375578409", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375578409", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs375578409", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375578409#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs375578409", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375578409", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9NRX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KKIHVYGYSMAYGPAQHAIS", "down_seq": "EKIKAKYPDYEVTWANDGY", "snv": [ { "evidence": [ { "id": "rs375578409", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375578409" }, { "id": "rs375578409", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375578409" }, { "id": "rs375578409", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375578409#frequency_tab" }, { "id": "rs375578409", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375578409" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850785", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T106", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fructose metabolism).", "chr_id": "9", "chr_pos": "136850786", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T106", "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" ] }, { "evidence": [ { "id": "rs375578409", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375578409" }, { "id": "rs375578409", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375578409" }, { "id": "rs375578409", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375578409#frequency_tab" }, { "id": "rs375578409", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375578409" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850785", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T106", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.125.125", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q9NRX4-1.107.107", "start_pos": 107, "end_pos": 107, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1848897670", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848897670", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1848897670", "url": "https://www.ensembl.org/id/rs1848897670", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1848897824", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848897824", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1848897824", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1848897824#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "KIHVYGYSMAYGPAQHAIST", "down_seq": "KIKAKYPDYEVTWANDGY", "snv": [ { "evidence": [ { "id": "rs1848897670", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848897670" }, { "id": "rs1848897670", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1848897670" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850788", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E107", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1848897824", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848897824" }, { "id": "rs1848897824", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1848897824#frequency_tab" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850789", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E107", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.125.125", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q9NRX4-1.108.108", "start_pos": 108, "end_pos": 108, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1210090179", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1210090179", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1210090179", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1210090179", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1564382889", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1564382889", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1564382889", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1564382889", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "IHVYGYSMAYGPAQHAISTE", "down_seq": "IKAKYPDYEVTWANDGY", "snv": [ { "evidence": [ { "id": "rs1210090179", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1210090179" }, { "id": "rs1210090179", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1210090179" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850793", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K108", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1564382889", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1564382889" }, { "id": "rs1564382889", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1564382889" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850792", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K108", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.125.125", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q9NRX4-1.109.109", "start_pos": 109, "end_pos": 109, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs922769138", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs922769138", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs922769138", "url": "http://gnomad.broadinstitute.org/awesome?query=rs922769138", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "HVYGYSMAYGPAQHAISTEK", "down_seq": "KAKYPDYEVTWANDGY", "snv": [ { "evidence": [ { "id": "rs922769138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs922769138" }, { "id": "rs922769138", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs922769138" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850795", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I109", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.125.125", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.10.10", "start_pos": 10, "end_pos": 10, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs762995256", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762995256", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs762995256", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762995256", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs762995256", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762995256#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs762995256", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762995256", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1848845153", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848845153", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1848845153", "url": "https://www.ensembl.org/id/rs1848845153", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "MAVADLALI", "down_seq": "DVDIDSDGVFKYVLIRVHSA", "snv": [ { "evidence": [ { "id": "rs762995256", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762995256" }, { "id": "rs762995256", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762995256" }, { "id": "rs762995256", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762995256#frequency_tab" }, { "id": "rs762995256", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762995256" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849459", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P10", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762995256", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762995256" }, { "id": "rs762995256", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762995256" }, { "id": "rs762995256", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762995256#frequency_tab" }, { "id": "rs762995256", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762995256" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849459", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P10", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1848845153", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848845153" }, { "id": "rs1848845153", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1848845153" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849458", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P10", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.21.21", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.30.30", "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": 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": "Q9NRX4-1.112.112", "start_pos": 112, "end_pos": 112, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NRX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs769655918", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769655918", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs769655918", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769655918", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs769655918", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769655918", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "GYSMAYGPAQHAISTEKIKA", "down_seq": "YPDYEVTWANDGY", "snv": [ { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fructose metabolism).", "chr_id": "9", "chr_pos": "136850803", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K112", "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": "rs769655918", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769655918" }, { "id": "rs769655918", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769655918" }, { "id": "rs769655918", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769655918" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850804", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K112", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.125.125", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q9NRX4-1.113.113", "start_pos": 113, "end_pos": 113, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1848898268", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848898268", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1848898268", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1848898268", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "YSMAYGPAQHAISTEKIKAK", "down_seq": "PDYEVTWANDGY", "snv": [ { "evidence": [ { "id": "rs1848898268", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848898268" }, { "id": "rs1848898268", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1848898268" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850808", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y113", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.125.125", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.114.114", "start_pos": 114, "end_pos": 114, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs148399003", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148399003", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs148399003", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs148399003", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs148399003", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148399003", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs148399003", "url": "https://www.ncbi.nlm.nih.gov/snp/rs148399003#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs148399003", "url": "http://gnomad.broadinstitute.org/awesome?query=rs148399003", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "SMAYGPAQHAISTEKIKAKY", "down_seq": "DYEVTWANDGY", "snv": [ { "evidence": [ { "id": "rs148399003", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148399003" }, { "id": "rs148399003", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs148399003" }, { "id": "rs148399003", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148399003" }, { "id": "rs148399003", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs148399003#frequency_tab" }, { "id": "rs148399003", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs148399003" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850809", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000588697", "site_lbl": "P114", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs148399003", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148399003" }, { "id": "rs148399003", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs148399003" }, { "id": "rs148399003", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148399003" }, { "id": "rs148399003", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs148399003#frequency_tab" }, { "id": "rs148399003", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs148399003" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850809", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000588697", "site_lbl": "P114", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs148399003", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148399003" }, { "id": "rs148399003", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs148399003" }, { "id": "rs148399003", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148399003" }, { "id": "rs148399003", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs148399003#frequency_tab" }, { "id": "rs148399003", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs148399003" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850809", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000588697", "site_lbl": "P114", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.125.125", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q9NRX4-1.115.115", "start_pos": 115, "end_pos": 115, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NRX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs564047136", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs564047136", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs564047136", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs564047136", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs564047136", "url": "https://www.ncbi.nlm.nih.gov/snp/rs564047136#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs564047136", "url": "http://gnomad.broadinstitute.org/awesome?query=rs564047136", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "MAYGPAQHAISTEKIKAKYP", "down_seq": "YEVTWANDGY", "snv": [ { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" }, { "id": "rs564047136", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs564047136" }, { "id": "rs564047136", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs564047136" }, { "id": "rs564047136", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs564047136#frequency_tab" }, { "id": "rs564047136", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs564047136" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fructose metabolism).", "chr_id": "9", "chr_pos": "136850812", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D115", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.125.125", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.116.116", "start_pos": 116, "end_pos": 116, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs760873921", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760873921", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs760873921", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760873921", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs760873921", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760873921#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs760873921", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760873921", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9NRX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "AYGPAQHAISTEKIKAKYPD", "down_seq": "EVTWANDGY", "snv": [ { "evidence": [ { "id": "rs760873921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760873921" }, { "id": "rs760873921", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760873921" }, { "id": "rs760873921", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760873921#frequency_tab" }, { "id": "rs760873921", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760873921" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850816", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y116", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fructose metabolism).", "chr_id": "9", "chr_pos": "136850816", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Y116", "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": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.125.125", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q9NRX4-1.117.117", "start_pos": 117, "end_pos": 117, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs776851042", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776851042", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs776851042", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776851042", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs776851042", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776851042#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs776851042", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776851042", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "YGPAQHAISTEKIKAKYPDY", "down_seq": "VTWANDGY", "snv": [ { "evidence": [ { "id": "rs776851042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776851042" }, { "id": "rs776851042", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776851042" }, { "id": "rs776851042", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776851042#frequency_tab" }, { "id": "rs776851042", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776851042" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850818", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E117", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.125.125", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.118.118", "start_pos": 118, "end_pos": 118, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1333843437", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1333843437", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1333843437", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1333843437", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "GPAQHAISTEKIKAKYPDYE", "down_seq": "TWANDGY", "snv": [ { "evidence": [ { "id": "rs1333843437", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1333843437" }, { "id": "rs1333843437", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1333843437" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850822", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V118", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.125.125", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.119.119", "start_pos": 119, "end_pos": 119, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs759754508", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759754508", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs759754508", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759754508", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs759754508", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759754508#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs759754508", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759754508", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PAQHAISTEKIKAKYPDYEV", "down_seq": "WANDGY", "snv": [ { "evidence": [ { "id": "rs759754508", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759754508" }, { "id": "rs759754508", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759754508" }, { "id": "rs759754508", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759754508#frequency_tab" }, { "id": "rs759754508", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759754508" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850825", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T119", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759754508", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759754508" }, { "id": "rs759754508", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759754508" }, { "id": "rs759754508", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759754508#frequency_tab" }, { "id": "rs759754508", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759754508" } ], "glycoeffect": [], "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850825", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T119", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.125.125", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q9NRX4-1.11.11", "start_pos": 11, "end_pos": 11, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NRX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1170616635", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1170616635", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1170616635", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1170616635", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "MAVADLALIP", "down_seq": "VDIDSDGVFKYVLIRVHSAP", "snv": [ { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fructose metabolism).", "chr_id": "9", "chr_pos": "136849461", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "D11", "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" ] }, { "evidence": [ { "id": "rs1170616635", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1170616635" }, { "id": "rs1170616635", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1170616635" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849461", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D11", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.21.21", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.31.31", "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": 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": "Q9NRX4-1.120.120", "start_pos": 120, "end_pos": 120, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs753087208", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753087208", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs753087208", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753087208", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs753087208", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753087208#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs753087208", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753087208", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "AQHAISTEKIKAKYPDYEVT", "down_seq": "ANDGY", "snv": [ { "evidence": [ { "id": "rs753087208", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753087208" }, { "id": "rs753087208", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753087208" }, { "id": "rs753087208", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753087208#frequency_tab" }, { "id": "rs753087208", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753087208" } ], "glycoeffect": [], "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850829", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W120", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.125.125", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.121.121", "start_pos": 121, "end_pos": 121, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1564382956", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1564382956", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1564382956", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1564382956#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "QHAISTEKIKAKYPDYEVTW", "down_seq": "NDGY", "snv": [ { "evidence": [ { "id": "rs1564382956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1564382956" }, { "id": "rs1564382956", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1564382956#frequency_tab" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850831", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A121", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.125.125", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.122.122", "start_pos": 122, "end_pos": 122, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs763431973", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763431973", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs763431973", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763431973", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs1329151283", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1329151283", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1329151283", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1329151283#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1329151283", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1329151283", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "HAISTEKIKAKYPDYEVTWA", "down_seq": "DGY", "snv": [ { "evidence": [ { "id": "rs763431973", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763431973" }, { "id": "rs763431973", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763431973" } ], "glycoeffect": [], "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850833", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N122", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1329151283", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1329151283" }, { "id": "rs1329151283", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1329151283#frequency_tab" }, { "id": "rs1329151283", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1329151283" } ], "glycoeffect": [], "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850834", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N122", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.125.125", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q9NRX4-1.123.123", "start_pos": 123, "end_pos": 123, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NRX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs764705291", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764705291", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs764705291", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764705291", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs764705291", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764705291#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs764705291", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764705291", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "AISTEKIKAKYPDYEVTWAN", "down_seq": "GY", "snv": [ { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" }, { "id": "rs764705291", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764705291" }, { "id": "rs764705291", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764705291" }, { "id": "rs764705291", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764705291#frequency_tab" }, { "id": "rs764705291", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764705291" } ], "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, fructose metabolism).", "chr_id": "9", "chr_pos": "136850836", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D123", "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" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.125.125", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.124.124", "start_pos": 124, "end_pos": 124, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs756851059", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756851059", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs756851059", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756851059", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs756851059", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756851059#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs756851059", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756851059", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "ISTEKIKAKYPDYEVTWAND", "down_seq": "", "snv": [ { "evidence": [ { "id": "rs756851059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756851059" }, { "id": "rs756851059", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756851059" }, { "id": "rs756851059", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756851059#frequency_tab" }, { "id": "rs756851059", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756851059" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850839", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G124", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756851059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756851059" }, { "id": "rs756851059", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756851059" }, { "id": "rs756851059", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756851059#frequency_tab" }, { "id": "rs756851059", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756851059" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850839", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G124", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.125.125", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q9NRX4-1.125.125", "start_pos": 125, "end_pos": 125, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1421751490", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1421751490", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1421751490", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1421751490#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1421751490", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1421751490", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1478727547", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1478727547", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1478727547", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1478727547#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1478727547", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1478727547", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "STEKIKAKYPDYEVTWANDG", "down_seq": "", "snv": [ { "evidence": [ { "id": "rs1421751490", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1421751490" }, { "id": "rs1421751490", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1421751490#frequency_tab" }, { "id": "rs1421751490", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1421751490" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850844", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y125", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1478727547", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1478727547" }, { "id": "rs1478727547", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1478727547#frequency_tab" }, { "id": "rs1478727547", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1478727547" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850843", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y125", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.124.124", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "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": "Q9NRX4-1.12.12", "start_pos": 12, "end_pos": 12, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs150899908", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150899908", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs150899908", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs150899908", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs150899908", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150899908", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs150899908", "url": "https://www.ncbi.nlm.nih.gov/snp/rs150899908#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs150899908", "url": "http://gnomad.broadinstitute.org/awesome?query=rs150899908", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs2131223348", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2131223348", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2131223348", "url": "https://www.ensembl.org/id/rs2131223348", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "MAVADLALIPD", "down_seq": "DIDSDGVFKYVLIRVHSAPR", "snv": [ { "evidence": [ { "id": "rs150899908", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150899908" }, { "id": "rs150899908", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs150899908" }, { "id": "rs150899908", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150899908" }, { "id": "rs150899908", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs150899908#frequency_tab" }, { "id": "rs150899908", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs150899908" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849465", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "V12", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2131223348", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2131223348" }, { "id": "rs2131223348", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2131223348" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849464", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V12", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.21.21", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9NRX4-1.13.13", "start_pos": 13, "end_pos": 13, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs756383392", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756383392", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs756383392", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756383392", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs756383392", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756383392#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs756383392", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756383392", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "MAVADLALIPDV", "down_seq": "IDSDGVFKYVLIRVHSAPRS", "snv": [ { "evidence": [ { "id": "rs756383392", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756383392" }, { "id": "rs756383392", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756383392" }, { "id": "rs756383392", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756383392#frequency_tab" }, { "id": "rs756383392", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756383392" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849467", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D13", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756383392", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756383392" }, { "id": "rs756383392", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756383392" }, { "id": "rs756383392", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756383392#frequency_tab" }, { "id": "rs756383392", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756383392" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849467", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D13", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.21.21", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.33.33", "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": "Q9NRX4-1.14.14", "start_pos": 14, "end_pos": 14, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs572061353", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572061353", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs572061353", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs572061353", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs572061353", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572061353", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs572061353", "url": "https://www.ncbi.nlm.nih.gov/snp/rs572061353#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs572061353", "url": "http://gnomad.broadinstitute.org/awesome?query=rs572061353", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1848845656", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848845656", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1848845656", "url": "https://www.ensembl.org/id/rs1848845656", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "MAVADLALIPDVD", "down_seq": "DSDGVFKYVLIRVHSAPRSG", "snv": [ { "evidence": [ { "id": "rs572061353", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572061353" }, { "id": "rs572061353", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs572061353" }, { "id": "rs572061353", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572061353" }, { "id": "rs572061353", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs572061353#frequency_tab" }, { "id": "rs572061353", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs572061353" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849472", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "I14", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1848845656", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848845656" }, { "id": "rs1848845656", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1848845656" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849470", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I14", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.21.21", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.33.33", "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": "Q9NRX4-1.15.15", "start_pos": 15, "end_pos": 15, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NRX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1848845902", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848845902", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1848845902", "url": "https://www.ensembl.org/id/rs1848845902", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "MAVADLALIPDVDI", "down_seq": "SDGVFKYVLIRVHSAPRSGA", "snv": [ { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" } ], "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, fructose metabolism).", "chr_id": "9", "chr_pos": "136849473", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D15", "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": "rs1848845902", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848845902" }, { "id": "rs1848845902", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1848845902" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849474", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D15", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.21.21", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.35.35", "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": 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": "Q9NRX4-1.16.16", "start_pos": 16, "end_pos": 16, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs755357300", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755357300", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs755357300", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755357300", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs755357300", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755357300#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs755357300", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755357300", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MAVADLALIPDVDID", "down_seq": "DGVFKYVLIRVHSAPRSGAP", "snv": [ { "evidence": [ { "id": "rs755357300", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755357300" }, { "id": "rs755357300", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755357300" }, { "id": "rs755357300", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755357300#frequency_tab" }, { "id": "rs755357300", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755357300" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849477", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S16", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755357300", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755357300" }, { "id": "rs755357300", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755357300" }, { "id": "rs755357300", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755357300#frequency_tab" }, { "id": "rs755357300", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755357300" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849477", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S16", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.21.21", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9NRX4-1.17.17", "start_pos": 17, "end_pos": 17, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1225046528", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1225046528", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1225046528", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1225046528#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1225046528", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1225046528", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1263541926", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1263541926", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1263541926", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1263541926#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1263541926", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1263541926", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1848846254", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848846254", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1848846254", "url": "https://www.ensembl.org/id/rs1848846254", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1848846254", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1848846254", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "MAVADLALIPDVDIDS", "down_seq": "GVFKYVLIRVHSAPRSGAPA", "snv": [ { "evidence": [ { "id": "rs1225046528", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1225046528" }, { "id": "rs1225046528", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1225046528#frequency_tab" }, { "id": "rs1225046528", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1225046528" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849481", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D17", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1263541926", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1263541926" }, { "id": "rs1263541926", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1263541926#frequency_tab" }, { "id": "rs1263541926", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1263541926" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849480", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D17", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1848846254", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848846254" }, { "id": "rs1848846254", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1848846254" }, { "id": "rs1848846254", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1848846254" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849479", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D17", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.21.21", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9NRX4-1.18.18", "start_pos": 18, "end_pos": 18, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1018836021", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1018836021", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1018836021", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1018836021#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1018836021", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1018836021", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1312365314", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1312365314", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1312365314", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1312365314#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1312365314", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1312365314", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9NRX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1018836021", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1018836021", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "MAVADLALIPDVDIDSD", "down_seq": "VFKYVLIRVHSAPRSGAPAA", "snv": [ { "evidence": [ { "id": "rs1018836021", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1018836021" }, { "id": "rs1018836021", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1018836021#frequency_tab" }, { "id": "rs1018836021", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1018836021" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849482", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G18", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1312365314", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1312365314" }, { "id": "rs1312365314", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1312365314#frequency_tab" }, { "id": "rs1312365314", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1312365314" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849483", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G18", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" }, { "id": "rs1018836021", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1018836021" }, { "id": "rs1018836021", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1018836021#frequency_tab" }, { "id": "rs1018836021", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1018836021" }, { "id": "rs1018836021", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1018836021" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fructose metabolism).", "chr_id": "9", "chr_pos": "136849482", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G18", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.21.21", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9NRX4-1.19.19", "start_pos": 19, "end_pos": 19, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs748538994", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748538994", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748538994", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748538994", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748538994", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748538994#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs748538994", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748538994", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "MAVADLALIPDVDIDSDG", "down_seq": "FKYVLIRVHSAPRSGAPAAE", "snv": [ { "evidence": [ { "id": "rs748538994", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748538994" }, { "id": "rs748538994", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748538994" }, { "id": "rs748538994", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748538994#frequency_tab" }, { "id": "rs748538994", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748538994" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849485", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V19", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748538994", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748538994" }, { "id": "rs748538994", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748538994" }, { "id": "rs748538994", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748538994#frequency_tab" }, { "id": "rs748538994", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748538994" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849485", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V19", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.21.21", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.39.39", "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": 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": "Q9NRX4-1.20.20", "start_pos": 20, "end_pos": 20, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1848847015", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848847015", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1848847015", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1848847015", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs75508917", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs75508917", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs75508917", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs75508917", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs75508917", "url": "https://www.ncbi.nlm.nih.gov/snp/rs75508917#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs75508917", "url": "http://gnomad.broadinstitute.org/awesome?query=rs75508917", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs2491089961", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2491089961", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "", "down_seq": "KYVLIRVHSAPRSGAPAAES", "snv": [ { "evidence": [ { "id": "rs1848847015", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848847015" }, { "id": "rs1848847015", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1848847015" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849488_136849489in", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F20", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs75508917", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs75508917" }, { "id": "rs75508917", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs75508917" }, { "id": "rs75508917", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs75508917#frequency_tab" }, { "id": "rs75508917", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs75508917" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849488", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F20", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs75508917", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs75508917" }, { "id": "rs75508917", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs75508917" }, { "id": "rs75508917", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs75508917#frequency_tab" }, { "id": "rs75508917", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs75508917" }, { "id": "rs2491089961", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2491089961" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849488", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F20", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.21.21", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.39.39", "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": "Q9NRX4-1.23.23", "start_pos": 23, "end_pos": 23, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs770535453", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770535453", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs770535453", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770535453", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs770535453", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770535453#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs770535453", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770535453", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "VADLALIPDVDIDSDGVFKY", "down_seq": "LIRVHSAPRSGAPAAESKEI", "snv": [ { "evidence": [ { "id": "rs770535453", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770535453" }, { "id": "rs770535453", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770535453" }, { "id": "rs770535453", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770535453#frequency_tab" }, { "id": "rs770535453", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770535453" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849497", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V23", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.21.21", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.43.43", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.24.24", "start_pos": 24, "end_pos": 24, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1333422190", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1333422190", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1333422190", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1333422190#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1333422190", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1333422190", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "ADLALIPDVDIDSDGVFKYV", "down_seq": "IRVHSAPRSGAPAAESKEIV", "snv": [ { "evidence": [ { "id": "rs1333422190", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1333422190" }, { "id": "rs1333422190", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1333422190#frequency_tab" }, { "id": "rs1333422190", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1333422190" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849501", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L24", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.21.21", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.44.44", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.25.25", "start_pos": 25, "end_pos": 25, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1022340950", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1022340950", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1022340950", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1022340950#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1022340950", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1022340950", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "DLALIPDVDIDSDGVFKYVL", "down_seq": "RVHSAPRSGAPAAESKEIVR", "snv": [ { "evidence": [ { "id": "rs1022340950", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1022340950" }, { "id": "rs1022340950", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1022340950#frequency_tab" }, { "id": "rs1022340950", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1022340950" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849505", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I25", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.21.21", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.45.45", "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": "Q9NRX4-1.26.26", "start_pos": 26, "end_pos": 26, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NRX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs776211003", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776211003", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs776211003", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776211003", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs776211003", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776211003#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs776211003", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776211003", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LALIPDVDIDSDGVFKYVLI", "down_seq": "VHSAPRSGAPAAESKEIVRG", "snv": [ { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fructose metabolism).", "chr_id": "9", "chr_pos": "136849506", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R26", "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": "rs776211003", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776211003" }, { "id": "rs776211003", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776211003" }, { "id": "rs776211003", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776211003#frequency_tab" }, { "id": "rs776211003", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776211003" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849507", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R26", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776211003", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776211003" }, { "id": "rs776211003", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776211003" }, { "id": "rs776211003", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776211003#frequency_tab" }, { "id": "rs776211003", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776211003" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849507", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R26", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.21.21", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.46.46", "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": 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": "Q9NRX4-1.27.27", "start_pos": 27, "end_pos": 27, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NRX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "ALIPDVDIDSDGVFKYVLIR", "down_seq": "HSAPRSGAPAAESKEIVRGY", "snv": [ { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fructose metabolism).", "chr_id": "9", "chr_pos": "136849509", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V27", "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": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.21.21", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.47.47", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.29.29", "start_pos": 29, "end_pos": 29, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs759358843", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759358843", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs759358843", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759358843", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs759358843", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759358843", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "IPDVDIDSDGVFKYVLIRVH", "down_seq": "APRSGAPAAESKEIVRGYKW", "snv": [ { "evidence": [ { "id": "rs759358843", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759358843" }, { "id": "rs759358843", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759358843" }, { "id": "rs759358843", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759358843" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849516", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S29", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.21.21", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.49.49", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.2.2", "start_pos": 2, "end_pos": 2, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs765132105", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765132105", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs765132105", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765132105", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs765132105", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765132105#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs765132105", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765132105", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "M", "down_seq": "VADLALIPDVDIDSDGVFKY", "snv": [ { "evidence": [ { "id": "rs765132105", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765132105" }, { "id": "rs765132105", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765132105" }, { "id": "rs765132105", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765132105#frequency_tab" }, { "id": "rs765132105", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765132105" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849435", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765132105", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765132105" }, { "id": "rs765132105", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765132105" }, { "id": "rs765132105", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765132105#frequency_tab" }, { "id": "rs765132105", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765132105" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849435", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.21.21", "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": "Q9NRX4-1.30.30", "start_pos": 30, "end_pos": 30, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NRX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "PDVDIDSDGVFKYVLIRVHS", "down_seq": "PRSGAPAAESKEIVRGYKWA", "snv": [ { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fructose metabolism).", "chr_id": "9", "chr_pos": "136849518", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A30", "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": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.21.21", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.31.31", "start_pos": 31, "end_pos": 31, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1848848410", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848848410", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1848848410", "url": "https://www.ensembl.org/id/rs1848848410", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "DVDIDSDGVFKYVLIRVHSA", "down_seq": "RSGAPAAESKEIVRGYKWAE", "snv": [ { "evidence": [ { "id": "rs1848848410", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848848410" }, { "id": "rs1848848410", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1848848410" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849522", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P31", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.21.21", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.51.51", "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": "Q9NRX4-1.32.32", "start_pos": 32, "end_pos": 32, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs775357814", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775357814", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs775357814", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775357814", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs775357814", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775357814", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VDIDSDGVFKYVLIRVHSAP", "down_seq": "SGAPAAESKEIVRGYKWAEY", "snv": [ { "evidence": [ { "id": "rs775357814", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775357814" }, { "id": "rs775357814", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775357814" }, { "id": "rs775357814", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775357814" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849525", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R32", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.21.21", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.33.33", "start_pos": 33, "end_pos": 33, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NRX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DIDSDGVFKYVLIRVHSAPR", "down_seq": "GAPAAESKEIVRGYKWAEYH", "snv": [ { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "S", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fructose metabolism).", "chr_id": "9", "chr_pos": "136849528", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "S33", "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:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.21.21", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.53.53", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.35.35", "start_pos": 35, "end_pos": 35, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs368273612", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368273612", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs368273612", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368273612", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs368273612", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368273612#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs368273612", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368273612", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "DSDGVFKYVLIRVHSAPRSG", "down_seq": "PAAESKEIVRGYKWAEYHAD", "snv": [ { "evidence": [ { "id": "rs368273612", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368273612" }, { "id": "rs368273612", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368273612" }, { "id": "rs368273612", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368273612#frequency_tab" }, { "id": "rs368273612", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368273612" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849533", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A35", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs368273612", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368273612" }, { "id": "rs368273612", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368273612" }, { "id": "rs368273612", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368273612#frequency_tab" }, { "id": "rs368273612", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368273612" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849533", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A35", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.21.21", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9NRX4-1.36.36", "start_pos": 36, "end_pos": 36, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1848849024", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848849024", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1848849024", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1848849024#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "SDGVFKYVLIRVHSAPRSGA", "down_seq": "AAESKEIVRGYKWAEYHADI", "snv": [ { "evidence": [ { "id": "rs1848849024", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848849024" }, { "id": "rs1848849024", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1848849024#frequency_tab" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849537", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P36", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.21.21", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.56.56", "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": "Q9NRX4-1.39.39", "start_pos": 39, "end_pos": 39, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs149603224", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149603224", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs149603224", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149603224", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs149603224", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149603224", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs149603224", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149603224#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs149603224", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149603224", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "VFKYVLIRVHSAPRSGAPAA", "down_seq": "SKEIVRGYKWAEYHADIYDK", "snv": [ { "evidence": [ { "id": "rs149603224", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149603224" }, { "id": "rs149603224", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149603224" }, { "id": "rs149603224", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149603224" }, { "id": "rs149603224", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149603224#frequency_tab" }, { "id": "rs149603224", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149603224" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849547", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.00274725", "site_lbl": "E39", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.21.21", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.59.59", "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": "Q9NRX4-1.3.3", "start_pos": 3, "end_pos": 3, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs75735760", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs75735760", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs75735760", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs75735760", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs75735760", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs75735760", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs75735760", "url": "https://www.ncbi.nlm.nih.gov/snp/rs75735760#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs75735760", "url": "http://gnomad.broadinstitute.org/awesome?query=rs75735760", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs75735760", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs75735760", "database": "COSMIC", "categories": [ "Other" ] }, { "id": "rs1364048877", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1364048877", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1364048877", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1364048877#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1364048877", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1364048877", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "MA", "down_seq": "ADLALIPDVDIDSDGVFKYV", "snv": [ { "evidence": [ { "id": "rs75735760", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs75735760" }, { "id": "rs75735760", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs75735760" }, { "id": "rs75735760", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs75735760" }, { "id": "rs75735760", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs75735760#frequency_tab" }, { "id": "rs75735760", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs75735760" }, { "id": "rs75735760", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs75735760" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849438", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.0145212", "site_lbl": "V3", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs75735760", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs75735760" }, { "id": "rs75735760", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs75735760" }, { "id": "rs75735760", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs75735760" }, { "id": "rs75735760", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs75735760#frequency_tab" }, { "id": "rs75735760", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs75735760" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849438", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.0145212", "site_lbl": "V3", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1364048877", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1364048877" }, { "id": "rs1364048877", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1364048877#frequency_tab" }, { "id": "rs1364048877", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1364048877" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849437", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1364048877", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1364048877" }, { "id": "rs1364048877", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1364048877#frequency_tab" }, { "id": "rs1364048877", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1364048877" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849437", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.21.21", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.23.23", "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": 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": "Q9NRX4-1.42.42", "start_pos": 42, "end_pos": 42, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1848849516", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848849516", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1848849516", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1848849516#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs372323529", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372323529", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs372323529", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372323529", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs372323529", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372323529#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs372323529", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372323529", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "YVLIRVHSAPRSGAPAAESK", "down_seq": "IVRGYKWAEYHADIYDKVSG", "snv": [ { "evidence": [ { "id": "rs1848849516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848849516" }, { "id": "rs1848849516", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1848849516#frequency_tab" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849556", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E42", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372323529", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372323529" }, { "id": "rs372323529", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372323529" }, { "id": "rs372323529", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372323529#frequency_tab" }, { "id": "rs372323529", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372323529" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849554", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E42", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372323529", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372323529" }, { "id": "rs372323529", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372323529" }, { "id": "rs372323529", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372323529#frequency_tab" }, { "id": "rs372323529", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372323529" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849554", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E42", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.62.62", "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": 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": "Q9NRX4-1.43.43", "start_pos": 43, "end_pos": 43, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1848849674", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848849674", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1848849674", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1848849674#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs867203083", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867203083", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs867203083", "url": "https://www.ensembl.org/id/rs867203083", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "VLIRVHSAPRSGAPAAESKE", "down_seq": "VRGYKWAEYHADIYDKVSGD", "snv": [ { "evidence": [ { "id": "rs1848849674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848849674" }, { "id": "rs1848849674", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1848849674#frequency_tab" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849558", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I43", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs867203083", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867203083" }, { "id": "rs867203083", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs867203083" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849557", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I43", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.63.63", "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": "Q9NRX4-1.44.44", "start_pos": 44, "end_pos": 44, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1848849811", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848849811", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1848849811", "url": "https://www.ensembl.org/id/rs1848849811", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "LIRVHSAPRSGAPAAESKEI", "down_seq": "RGYKWAEYHADIYDKVSGDM", "snv": [ { "evidence": [ { "id": "rs1848849811", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848849811" }, { "id": "rs1848849811", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1848849811" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849560", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V44", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.46.46", "start_pos": 46, "end_pos": 46, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1848850075", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848850075", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1848850075", "url": "https://www.ensembl.org/id/rs1848850075", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "RVHSAPRSGAPAAESKEIVR", "down_seq": "YKWAEYHADIYDKVSGDMQK", "snv": [ { "evidence": [ { "id": "rs1848850075", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848850075" }, { "id": "rs1848850075", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1848850075" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849566", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G46", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.65.65", "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": "Q9NRX4-1.47.47", "start_pos": 47, "end_pos": 47, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs753951169", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753951169", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs753951169", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753951169", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs753951169", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753951169#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs753951169", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753951169", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "VHSAPRSGAPAAESKEIVRG", "down_seq": "KWAEYHADIYDKVSGDMQKQ", "snv": [ { "evidence": [ { "id": "rs753951169", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753951169" }, { "id": "rs753951169", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753951169" }, { "id": "rs753951169", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753951169#frequency_tab" }, { "id": "rs753951169", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753951169" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849570", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y47", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753951169", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753951169" }, { "id": "rs753951169", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753951169" }, { "id": "rs753951169", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753951169#frequency_tab" }, { "id": "rs753951169", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753951169" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849570", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y47", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.67.67", "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": 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": "Q9NRX4-1.48.48", "start_pos": 48, "end_pos": 48, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs755235694", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755235694", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs755235694", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755235694", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs755235694", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755235694#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs755235694", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755235694", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs375496594", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375496594", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs375496594", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375496594", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs375496594", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375496594#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs375496594", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375496594", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "HSAPRSGAPAAESKEIVRGY", "down_seq": "WAEYHADIYDKVSGDMQKQG", "snv": [ { "evidence": [ { "id": "rs755235694", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755235694" }, { "id": "rs755235694", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755235694" }, { "id": "rs755235694", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755235694#frequency_tab" }, { "id": "rs755235694", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755235694" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849572", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K48", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755235694", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755235694" }, { "id": "rs755235694", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755235694" }, { "id": "rs755235694", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755235694#frequency_tab" }, { "id": "rs755235694", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755235694" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849572", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K48", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs375496594", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375496594" }, { "id": "rs375496594", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375496594" }, { "id": "rs375496594", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375496594#frequency_tab" }, { "id": "rs375496594", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375496594" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849573", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K48", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.68.68", "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": 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": "Q9NRX4-1.49.49", "start_pos": 49, "end_pos": 49, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs992281551", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs992281551", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs992281551", "url": "https://www.ncbi.nlm.nih.gov/snp/rs992281551#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs992281551", "url": "http://gnomad.broadinstitute.org/awesome?query=rs992281551", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1848850502", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848850502", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1848850502", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1848850502#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "Q9NRX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs992281551", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs992281551", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "SAPRSGAPAAESKEIVRGYK", "down_seq": "AEYHADIYDKVSGDMQKQGC", "snv": [ { "evidence": [ { "id": "rs992281551", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs992281551" }, { "id": "rs992281551", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs992281551#frequency_tab" }, { "id": "rs992281551", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs992281551" }, { "id": "rs1848850502", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848850502" }, { "id": "rs1848850502", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1848850502#frequency_tab" } ], "glycoeffect": [], "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849577", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W49", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" }, { "id": "rs992281551", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs992281551" }, { "id": "rs992281551", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs992281551#frequency_tab" }, { "id": "rs992281551", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs992281551" }, { "id": "rs992281551", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs992281551" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fructose metabolism).", "chr_id": "9", "chr_pos": "136849577", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "W49", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.69.69", "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": 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": "Q9NRX4-1.4.4", "start_pos": 4, "end_pos": 4, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs781550423", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781550423", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs781550423", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781550423", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs781550423", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781550423#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs781550423", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781550423", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1368565531", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1368565531", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1368565531", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1368565531#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "MAV", "down_seq": "DLALIPDVDIDSDGVFKYVL", "snv": [ { "evidence": [ { "id": "rs781550423", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781550423" }, { "id": "rs781550423", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781550423" }, { "id": "rs781550423", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781550423#frequency_tab" }, { "id": "rs781550423", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781550423" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849441", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A4", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781550423", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781550423" }, { "id": "rs781550423", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781550423" }, { "id": "rs781550423", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781550423#frequency_tab" }, { "id": "rs781550423", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781550423" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849441", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A4", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1368565531", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1368565531" }, { "id": "rs1368565531", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1368565531#frequency_tab" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849440", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A4", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781550423", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781550423" }, { "id": "rs781550423", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781550423" }, { "id": "rs781550423", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781550423#frequency_tab" }, { "id": "rs781550423", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781550423" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849441", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A4", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.21.21", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "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": "Q9NRX4-1.50.50", "start_pos": 50, "end_pos": 50, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1224263385", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1224263385", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1224263385", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1224263385#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1224263385", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1224263385", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs940336778", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs940336778", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs940336778", "url": "https://www.ncbi.nlm.nih.gov/snp/rs940336778#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs940336778", "url": "http://gnomad.broadinstitute.org/awesome?query=rs940336778", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "APRSGAPAAESKEIVRGYKW", "down_seq": "EYHADIYDKVSGDMQKQGCD", "snv": [ { "evidence": [ { "id": "rs1224263385", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1224263385" }, { "id": "rs1224263385", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1224263385#frequency_tab" }, { "id": "rs1224263385", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1224263385" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849578", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A50", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs940336778", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs940336778" }, { "id": "rs940336778", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs940336778#frequency_tab" }, { "id": "rs940336778", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs940336778" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849579", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A50", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.51.51", "start_pos": 51, "end_pos": 51, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1468861655", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1468861655", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1468861655", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1468861655", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs200605482", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200605482", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs200605482", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200605482", "database": "1000Genomes", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "PRSGAPAAESKEIVRGYKWA", "down_seq": "YHADIYDKVSGDMQKQGCDC", "snv": [ { "evidence": [ { "id": "rs1468861655", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1468861655" }, { "id": "rs1468861655", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1468861655" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849582", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E51", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200605482", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200605482" }, { "id": "rs200605482", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200605482" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849581", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "E51", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.71.71", "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": 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": "Q9NRX4-1.52.52", "start_pos": 52, "end_pos": 52, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1450494627", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1450494627", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1450494627", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1450494627#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1450494627", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1450494627", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "RSGAPAAESKEIVRGYKWAE", "down_seq": "HADIYDKVSGDMQKQGCDCE", "snv": [ { "evidence": [ { "id": "rs1450494627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1450494627" }, { "id": "rs1450494627", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1450494627#frequency_tab" }, { "id": "rs1450494627", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1450494627" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849586", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y52", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.54.54", "start_pos": 54, "end_pos": 54, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1275592074", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1275592074", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1275592074", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1275592074", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "GAPAAESKEIVRGYKWAEYH", "down_seq": "DIYDKVSGDMQKQGCDCECL", "snv": [ { "evidence": [ { "id": "rs1275592074", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1275592074" }, { "id": "rs1275592074", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1275592074" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850013", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A54", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.73.73", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.55.55", "start_pos": 55, "end_pos": 55, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs779920881", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779920881", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs779920881", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779920881", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs779920881", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779920881", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "APAAESKEIVRGYKWAEYHA", "down_seq": "IYDKVSGDMQKQGCDCECLG", "snv": [ { "evidence": [ { "id": "rs779920881", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779920881" }, { "id": "rs779920881", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779920881" }, { "id": "rs779920881", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779920881" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850015", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D55", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.73.73", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.56.56", "start_pos": 56, "end_pos": 56, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs768515068", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768515068", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs768515068", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768515068", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs768515068", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768515068#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs768515068", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768515068", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "PAAESKEIVRGYKWAEYHAD", "down_seq": "YDKVSGDMQKQGCDCECLGG", "snv": [ { "evidence": [ { "id": "rs768515068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768515068" }, { "id": "rs768515068", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768515068" }, { "id": "rs768515068", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768515068#frequency_tab" }, { "id": "rs768515068", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768515068" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850020", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I56", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.76.76", "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": "Q9NRX4-1.57.57", "start_pos": 57, "end_pos": 57, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1848865952", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848865952", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1848865952", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1848865952#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1848865952", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1848865952", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "AAESKEIVRGYKWAEYHADI", "down_seq": "DKVSGDMQKQGCDCECLGGG", "snv": [ { "evidence": [ { "id": "rs1848865952", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848865952" }, { "id": "rs1848865952", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1848865952#frequency_tab" }, { "id": "rs1848865952", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1848865952" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850022", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y57", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.77.77", "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": "Q9NRX4-1.58.58", "start_pos": 58, "end_pos": 58, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs373295324", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373295324", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs373295324", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373295324#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs373295324", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373295324", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9NRX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "AESKEIVRGYKWAEYHADIY", "down_seq": "KVSGDMQKQGCDCECLGGGR", "snv": [ { "evidence": [ { "id": "rs373295324", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373295324" }, { "id": "rs373295324", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373295324#frequency_tab" }, { "id": "rs373295324", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373295324" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850024", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D58", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fructose metabolism).", "chr_id": "9", "chr_pos": "136850024", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D58", "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": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.78.78", "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": "Q9NRX4-1.59.59", "start_pos": 59, "end_pos": 59, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1848866129", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848866129", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1848866129", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1848866129#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "ESKEIVRGYKWAEYHADIYD", "down_seq": "VSGDMQKQGCDCECLGGGRI", "snv": [ { "evidence": [ { "id": "rs1848866129", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848866129" }, { "id": "rs1848866129", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1848866129#frequency_tab" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850027", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K59", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.79.79", "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": "Q9NRX4-1.5.5", "start_pos": 5, "end_pos": 5, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs202021757", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202021757", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs202021757", "url": "https://www.ensembl.org/id/rs202021757", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs139029614", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139029614", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs139029614", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs139029614", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs139029614", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139029614", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs139029614", "url": "https://www.ncbi.nlm.nih.gov/snp/rs139029614#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs139029614", "url": "http://gnomad.broadinstitute.org/awesome?query=rs139029614", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "MAVA", "down_seq": "LALIPDVDIDSDGVFKYVLI", "snv": [ { "evidence": [ { "id": "rs202021757", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202021757" }, { "id": "rs202021757", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs202021757" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849444", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D5", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs202021757", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202021757" }, { "id": "rs202021757", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs202021757" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849444", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D5", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs139029614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139029614" }, { "id": "rs139029614", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs139029614" }, { "id": "rs139029614", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139029614" }, { "id": "rs139029614", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs139029614#frequency_tab" }, { "id": "rs139029614", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs139029614" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849443", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "D5", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs139029614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139029614" }, { "id": "rs139029614", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs139029614" }, { "id": "rs139029614", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139029614" }, { "id": "rs139029614", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs139029614#frequency_tab" }, { "id": "rs139029614", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs139029614" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849443", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "D5", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs139029614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139029614" }, { "id": "rs139029614", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs139029614" }, { "id": "rs139029614", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139029614" }, { "id": "rs139029614", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs139029614#frequency_tab" }, { "id": "rs139029614", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs139029614" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849443", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "D5", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.21.21", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.25.25", "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": 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": "Q9NRX4-1.60.60", "start_pos": 60, "end_pos": 60, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1201646450", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1201646450", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1201646450", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1201646450#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1201646450", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1201646450", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "SKEIVRGYKWAEYHADIYDK", "down_seq": "SGDMQKQGCDCECLGGGRIS", "snv": [ { "evidence": [ { "id": "rs1201646450", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1201646450" }, { "id": "rs1201646450", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1201646450#frequency_tab" }, { "id": "rs1201646450", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1201646450" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850031", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V60", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.80.80", "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": "Q9NRX4-1.61.61", "start_pos": 61, "end_pos": 61, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NRX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs748061341", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748061341", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748061341", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748061341", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748061341", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748061341#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs748061341", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748061341", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs748061341", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs748061341", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KEIVRGYKWAEYHADIYDKV", "down_seq": "GDMQKQGCDCECLGGGRISH", "snv": [ { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" }, { "id": "rs748061341", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748061341" }, { "id": "rs748061341", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748061341" }, { "id": "rs748061341", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748061341#frequency_tab" }, { "id": "rs748061341", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748061341" }, { "id": "rs748061341", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs748061341" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fructose metabolism).", "chr_id": "9", "chr_pos": "136850034", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S61", "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": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.81.81", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.62.62", "start_pos": 62, "end_pos": 62, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NRX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs776554939", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776554939", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs776554939", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776554939", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs776554939", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776554939", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "EIVRGYKWAEYHADIYDKVS", "down_seq": "DMQKQGCDCECLGGGRISHQ", "snv": [ { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fructose metabolism).", "chr_id": "9", "chr_pos": "136850037", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "G62", "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": "rs776554939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776554939" }, { "id": "rs776554939", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776554939" }, { "id": "rs776554939", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776554939" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850036", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G62", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q9NRX4-1.63.63", "start_pos": 63, "end_pos": 63, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NRX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1422430188", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1422430188", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1422430188", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1422430188#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1422430188", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1422430188", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "IVRGYKWAEYHADIYDKVSG", "down_seq": "MQKQGCDCECLGGGRISHQS", "snv": [ { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" }, { "id": "rs1422430188", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1422430188" }, { "id": "rs1422430188", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1422430188#frequency_tab" }, { "id": "rs1422430188", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1422430188" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fructose metabolism).", "chr_id": "9", "chr_pos": "136850039", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D63", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.83.83", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.64.64", "start_pos": 64, "end_pos": 64, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NRX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1443840089", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1443840089", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1443840089", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1443840089#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1443840089", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1443840089", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "VRGYKWAEYHADIYDKVSGD", "down_seq": "QKQGCDCECLGGGRISHQSQ", "snv": [ { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" }, { "id": "rs1443840089", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1443840089" }, { "id": "rs1443840089", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1443840089#frequency_tab" }, { "id": "rs1443840089", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1443840089" } ], "glycoeffect": [], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fructose metabolism).", "chr_id": "9", "chr_pos": "136850044", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "M64", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.65.65", "start_pos": 65, "end_pos": 65, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs759698027", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759698027", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs759698027", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759698027", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs759698027", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759698027", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1848866973", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848866973", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1848866973", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1848866973#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "RGYKWAEYHADIYDKVSGDM", "down_seq": "KQGCDCECLGGGRISHQSQD", "snv": [ { "evidence": [ { "id": "rs759698027", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759698027" }, { "id": "rs759698027", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759698027" }, { "id": "rs759698027", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759698027" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850045", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q65", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1848866973", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848866973" }, { "id": "rs1848866973", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1848866973#frequency_tab" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850046", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q65", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.45.45", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.85.85", "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": 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": "Q9NRX4-1.67.67", "start_pos": 67, "end_pos": 67, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs775743770", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775743770", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs775743770", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775743770", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs775743770", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775743770", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "YKWAEYHADIYDKVSGDMQK", "down_seq": "GCDCECLGGGRISHQSQDKK", "snv": [ { "evidence": [ { "id": "rs775743770", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775743770" }, { "id": "rs775743770", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775743770" }, { "id": "rs775743770", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775743770" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850051", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q67", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775743770", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775743770" }, { "id": "rs775743770", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775743770" }, { "id": "rs775743770", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775743770" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850051", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q67", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.87.87", "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": 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": "Q9NRX4-1.68.68", "start_pos": 68, "end_pos": 68, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs751950321", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751950321", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs751950321", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751950321", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs751950321", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751950321#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs751950321", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751950321", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9NRX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs764374291", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764374291", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs764374291", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764374291", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs764374291", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764374291#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs764374291", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764374291", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs751950321", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs751950321", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "KWAEYHADIYDKVSGDMQKQ", "down_seq": "CDCECLGGGRISHQSQDKKI", "snv": [ { "evidence": [ { "id": "rs751950321", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751950321" }, { "id": "rs751950321", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751950321" }, { "id": "rs751950321", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751950321#frequency_tab" }, { "id": "rs751950321", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751950321" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850055", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G68", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" } ], "glycoeffect": [], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fructose metabolism).", "chr_id": "9", "chr_pos": "136850055", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G68", "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": "rs764374291", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764374291" }, { "id": "rs764374291", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764374291" }, { "id": "rs764374291", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764374291#frequency_tab" }, { "id": "rs764374291", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764374291" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850054", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G68", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" }, { "id": "rs751950321", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751950321" }, { "id": "rs751950321", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751950321" }, { "id": "rs751950321", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751950321#frequency_tab" }, { "id": "rs751950321", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751950321" }, { "id": "rs751950321", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs751950321" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fructose metabolism).", "chr_id": "9", "chr_pos": "136850055", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G68", "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" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.88.88", "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": 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": "Q9NRX4-1.69.69", "start_pos": 69, "end_pos": 69, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1848867563", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848867563", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1848867563", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1848867563", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "WAEYHADIYDKVSGDMQKQG", "down_seq": "DCECLGGGRISHQSQDKKIH", "snv": [ { "evidence": [ { "id": "rs1848867563", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848867563" }, { "id": "rs1848867563", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1848867563" } ], "glycoeffect": [], "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850058", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C69", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.6.6", "start_pos": 6, "end_pos": 6, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs747681702", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747681702", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs747681702", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747681702", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs747681702", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747681702#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs747681702", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747681702", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1230101414", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1230101414", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1230101414", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1230101414", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "MAVAD", "down_seq": "ALIPDVDIDSDGVFKYVLIR", "snv": [ { "evidence": [ { "id": "rs747681702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747681702" }, { "id": "rs747681702", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747681702" }, { "id": "rs747681702", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747681702#frequency_tab" }, { "id": "rs747681702", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747681702" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849446", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L6", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1230101414", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1230101414" }, { "id": "rs1230101414", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1230101414" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849447", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L6", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747681702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747681702" }, { "id": "rs747681702", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747681702" }, { "id": "rs747681702", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747681702#frequency_tab" }, { "id": "rs747681702", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747681702" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849446", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L6", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.21.21", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.26.26", "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": 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": "Q9NRX4-1.70.70", "start_pos": 70, "end_pos": 70, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1055120630", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1055120630", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1055120630", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1055120630#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1055120630", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1055120630", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1848867714", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848867714", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1848867714", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1848867714", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "AEYHADIYDKVSGDMQKQGC", "down_seq": "CECLGGGRISHQSQDKKIHV", "snv": [ { "evidence": [ { "id": "rs1055120630", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1055120630" }, { "id": "rs1055120630", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1055120630#frequency_tab" }, { "id": "rs1055120630", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1055120630" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850062", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D70", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1848867714", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848867714" }, { "id": "rs1848867714", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1848867714" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850060", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D70", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9NRX4-1.71.71", "start_pos": 71, "end_pos": 71, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs749898028", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749898028", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs749898028", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749898028", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs749898028", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749898028", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "EYHADIYDKVSGDMQKQGCD", "down_seq": "ECLGGGRISHQSQDKKIHVY", "snv": [ { "evidence": [ { "id": "rs749898028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749898028" }, { "id": "rs749898028", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749898028" }, { "id": "rs749898028", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749898028" } ], "glycoeffect": [], "sequence_org": "C", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850065", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C71", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.91.91", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.72.72", "start_pos": 72, "end_pos": 72, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1265156315", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1265156315", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1265156315", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1265156315#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1265156315", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1265156315", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "YHADIYDKVSGDMQKQGCDC", "down_seq": "CLGGGRISHQSQDKKIHVYG", "snv": [ { "evidence": [ { "id": "rs1265156315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1265156315" }, { "id": "rs1265156315", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1265156315#frequency_tab" }, { "id": "rs1265156315", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1265156315" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850066", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E72", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.73.73", "start_pos": 73, "end_pos": 73, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NRX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "HADIYDKVSGDMQKQGCDCE", "down_seq": "LGGGRISHQSQDKKIHVYGY", "snv": [ { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "C", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fructose metabolism).", "chr_id": "9", "chr_pos": "136850070", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "C73", "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": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.53.53", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.76.76", "start_pos": 76, "end_pos": 76, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NRX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "IYDKVSGDMQKQGCDCECLG", "down_seq": "GRISHQSQDKKIHVYGYSMA", "snv": [ { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fructose metabolism).", "chr_id": "9", "chr_pos": "136850078", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G76", "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:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/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": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.77.77", "start_pos": 77, "end_pos": 77, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NRX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2491093456", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2491093456", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "YDKVSGDMQKQGCDCECLGG", "down_seq": "RISHQSQDKKIHVYGYSMAY", "snv": [ { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" }, { "id": "rs2491093456", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2491093456" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fructose metabolism).", "chr_id": "9", "chr_pos": "136850081", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G77", "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": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.79.79", "start_pos": 79, "end_pos": 79, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs563301965", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs563301965", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs563301965", "url": "https://www.ncbi.nlm.nih.gov/snp/rs563301965#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs563301965", "url": "http://gnomad.broadinstitute.org/awesome?query=rs563301965", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "KVSGDMQKQGCDCECLGGGR", "down_seq": "SHQSQDKKIHVYGYSMAYGP", "snv": [ { "evidence": [ { "id": "rs563301965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs563301965" }, { "id": "rs563301965", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs563301965#frequency_tab" }, { "id": "rs563301965", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs563301965" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850089", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I79", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.99.99", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.7.7", "start_pos": 7, "end_pos": 7, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs141428638", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141428638", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs141428638", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs141428638", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs141428638", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141428638", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs141428638", "url": "https://www.ncbi.nlm.nih.gov/snp/rs141428638#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs141428638", "url": "http://gnomad.broadinstitute.org/awesome?query=rs141428638", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs374108538", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374108538", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs374108538", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374108538", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs374108538", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374108538#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs374108538", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374108538", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "MAVADL", "down_seq": "LIPDVDIDSDGVFKYVLIRV", "snv": [ { "evidence": [ { "id": "rs141428638", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141428638" }, { "id": "rs141428638", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs141428638" }, { "id": "rs141428638", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141428638" }, { "id": "rs141428638", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs141428638#frequency_tab" }, { "id": "rs141428638", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs141428638" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849449", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "A7", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs141428638", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141428638" }, { "id": "rs141428638", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs141428638" }, { "id": "rs141428638", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141428638" }, { "id": "rs141428638", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs141428638#frequency_tab" }, { "id": "rs141428638", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs141428638" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849449", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "A7", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs374108538", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374108538" }, { "id": "rs374108538", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374108538" }, { "id": "rs374108538", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374108538#frequency_tab" }, { "id": "rs374108538", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374108538" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849450", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A7", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.21.21", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9NRX4-1.80.80", "start_pos": 80, "end_pos": 80, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1848868882", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848868882", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1848868882", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1848868882#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "Q9NRX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VSGDMQKQGCDCECLGGGRI", "down_seq": "HQSQDKKIHVYGYSMAYGPA", "snv": [ { "evidence": [ { "id": "rs1848868882", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848868882" }, { "id": "rs1848868882", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1848868882#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850091", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S80", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fructose metabolism).", "chr_id": "9", "chr_pos": "136850090", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S80", "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": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.100.100", "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", "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": "Q9NRX4-1.81.81", "start_pos": 81, "end_pos": 81, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1442327796", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1442327796", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1442327796", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1442327796", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs748028738", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748028738", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748028738", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748028738", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748028738", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748028738#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs748028738", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748028738", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs543444203", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs543444203", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs543444203", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs543444203", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs543444203", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs543444203", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs543444203", "url": "https://www.ncbi.nlm.nih.gov/snp/rs543444203#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs543444203", "url": "http://gnomad.broadinstitute.org/awesome?query=rs543444203", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "SGDMQKQGCDCECLGGGRIS", "down_seq": "QSQDKKIHVYGYSMAYGPAQ", "snv": [ { "evidence": [ { "id": "rs1442327796", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1442327796" }, { "id": "rs1442327796", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1442327796" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850094", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H81", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748028738", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748028738" }, { "id": "rs748028738", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748028738" }, { "id": "rs748028738", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748028738#frequency_tab" }, { "id": "rs748028738", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748028738" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850095", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H81", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs543444203", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs543444203" }, { "id": "rs543444203", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs543444203" }, { "id": "rs543444203", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs543444203" }, { "id": "rs543444203", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs543444203#frequency_tab" }, { "id": "rs543444203", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs543444203" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850093", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.00137363", "site_lbl": "H81", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q9NRX4-1.82.82", "start_pos": 82, "end_pos": 82, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1588387059", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1588387059", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1588387059", "url": "https://www.ensembl.org/id/rs1588387059", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs777828998", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777828998", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs777828998", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777828998", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs777828998", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777828998#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs777828998", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777828998", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs771876914", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771876914", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs771876914", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771876914", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs771876914", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771876914#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs771876914", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771876914", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "GDMQKQGCDCECLGGGRISH", "down_seq": "SQDKKIHVYGYSMAYGPAQH", "snv": [ { "evidence": [ { "id": "rs1588387059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1588387059" }, { "id": "rs1588387059", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1588387059" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850096", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q82", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777828998", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777828998" }, { "id": "rs777828998", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777828998" }, { "id": "rs777828998", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777828998#frequency_tab" }, { "id": "rs777828998", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777828998" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850098", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q82", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771876914", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771876914" }, { "id": "rs771876914", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771876914" }, { "id": "rs771876914", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771876914#frequency_tab" }, { "id": "rs771876914", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771876914" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850097", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q82", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.102.102", "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": "Q9NRX4-1.83.83", "start_pos": 83, "end_pos": 83, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs201397178", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201397178", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs201397178", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201397178", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs201397178", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201397178", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs201397178", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201397178#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs201397178", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201397178", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs775549345", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775549345", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs775549345", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775549345", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs775549345", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775549345#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs775549345", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775549345", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1474287561", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1474287561", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1474287561", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1474287561#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DMQKQGCDCECLGGGRISHQ", "down_seq": "QDKKIHVYGYSMAYGPAQHA", "snv": [ { "evidence": [ { "id": "rs201397178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201397178" }, { "id": "rs201397178", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201397178" }, { "id": "rs201397178", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201397178" }, { "id": "rs201397178", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201397178#frequency_tab" }, { "id": "rs201397178", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201397178" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850099", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "S83", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201397178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201397178" }, { "id": "rs201397178", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201397178" }, { "id": "rs201397178", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201397178" }, { "id": "rs201397178", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201397178#frequency_tab" }, { "id": "rs201397178", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201397178" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850099", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "S83", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775549345", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775549345" }, { "id": "rs775549345", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775549345" }, { "id": "rs775549345", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775549345#frequency_tab" }, { "id": "rs775549345", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775549345" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850100", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S83", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1474287561", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1474287561" }, { "id": "rs1474287561", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1474287561#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850101", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S83", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.103.103", "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": 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": "Q9NRX4-1.84.84", "start_pos": 84, "end_pos": 84, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1241517566", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1241517566", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1241517566", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1241517566#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs552349749", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs552349749", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs552349749", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs552349749", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs552349749", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs552349749", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs552349749", "url": "https://www.ncbi.nlm.nih.gov/snp/rs552349749#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs552349749", "url": "http://gnomad.broadinstitute.org/awesome?query=rs552349749", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs552349749", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs552349749", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "MQKQGCDCECLGGGRISHQS", "down_seq": "DKKIHVYGYSMAYGPAQHAI", "snv": [ { "evidence": [ { "id": "rs1241517566", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1241517566" }, { "id": "rs1241517566", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1241517566#frequency_tab" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850102", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q84", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1241517566", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1241517566" }, { "id": "rs1241517566", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1241517566#frequency_tab" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850102", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q84", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs552349749", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs552349749" }, { "id": "rs552349749", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs552349749" }, { "id": "rs552349749", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs552349749" }, { "id": "rs552349749", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs552349749#frequency_tab" }, { "id": "rs552349749", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs552349749" }, { "id": "rs552349749", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs552349749" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850103", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q84", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q9NRX4-1.85.85", "start_pos": 85, "end_pos": 85, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs774675816", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774675816", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs774675816", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774675816", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs774675816", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774675816#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs774675816", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774675816", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "QKQGCDCECLGGGRISHQSQ", "down_seq": "KKIHVYGYSMAYGPAQHAIS", "snv": [ { "evidence": [ { "id": "rs774675816", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774675816" }, { "id": "rs774675816", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774675816" }, { "id": "rs774675816", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774675816#frequency_tab" }, { "id": "rs774675816", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774675816" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850105", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D85", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.105.105", "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": "Q9NRX4-1.86.86", "start_pos": 86, "end_pos": 86, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1419982185", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1419982185", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1419982185", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1419982185#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1419982185", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1419982185", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs762278468", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762278468", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs762278468", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762278468", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs762278468", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762278468", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "KQGCDCECLGGGRISHQSQD", "down_seq": "KIHVYGYSMAYGPAQHAIST", "snv": [ { "evidence": [ { "id": "rs1419982185", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1419982185" }, { "id": "rs1419982185", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1419982185#frequency_tab" }, { "id": "rs1419982185", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1419982185" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850108", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K86", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762278468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762278468" }, { "id": "rs762278468", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762278468" }, { "id": "rs762278468", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762278468" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850110", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K86", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.87.87", "start_pos": 87, "end_pos": 87, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs371383718", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371383718", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs371383718", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371383718", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs371383718", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371383718#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs371383718", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371383718", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9NRX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "QGCDCECLGGGRISHQSQDK", "down_seq": "IHVYGYSMAYGPAQHAISTE", "snv": [ { "evidence": [ { "id": "rs371383718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371383718" }, { "id": "rs371383718", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371383718" }, { "id": "rs371383718", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371383718#frequency_tab" }, { "id": "rs371383718", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371383718" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850113", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K87", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fructose metabolism).", "chr_id": "9", "chr_pos": "136850111", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K87", "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": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9NRX4-1.88.88", "start_pos": 88, "end_pos": 88, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs749264533", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749264533", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs749264533", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749264533", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "GCDCECLGGGRISHQSQDKK", "down_seq": "HVYGYSMAYGPAQHAISTEK", "snv": [ { "evidence": [ { "id": "rs749264533", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749264533" }, { "id": "rs749264533", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749264533" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850116", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I88", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.108.108", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.89.89", "start_pos": 89, "end_pos": 89, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs143268580", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143268580", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs143268580", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143268580", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs143268580", "url": "https://www.ncbi.nlm.nih.gov/snp/rs143268580#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs143268580", "url": "http://gnomad.broadinstitute.org/awesome?query=rs143268580", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1209917042", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1209917042", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1209917042", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1209917042", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9NRX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "CDCECLGGGRISHQSQDKKI", "down_seq": "VYGYSMAYGPAQHAISTEKI", "snv": [ { "evidence": [ { "id": "rs143268580", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143268580" }, { "id": "rs143268580", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143268580" }, { "id": "rs143268580", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs143268580#frequency_tab" }, { "id": "rs143268580", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs143268580" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850117", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H89", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1209917042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1209917042" }, { "id": "rs1209917042", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1209917042" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850118", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H89", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fructose metabolism).", "chr_id": "9", "chr_pos": "136850117", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "H89", "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": "rs143268580", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143268580" }, { "id": "rs143268580", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143268580" }, { "id": "rs143268580", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs143268580#frequency_tab" }, { "id": "rs143268580", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs143268580" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850117", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H89", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9NRX4-1.8.8", "start_pos": 8, "end_pos": 8, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs765214168", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765214168", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs765214168", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765214168", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs765214168", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765214168#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs765214168", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765214168", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9NRX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "MAVADLA", "down_seq": "IPDVDIDSDGVFKYVLIRVH", "snv": [ { "evidence": [ { "id": "rs765214168", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765214168" }, { "id": "rs765214168", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765214168" }, { "id": "rs765214168", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765214168#frequency_tab" }, { "id": "rs765214168", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765214168" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849452", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L8", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fructose metabolism).", "chr_id": "9", "chr_pos": "136849452", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L8", "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": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.21.21", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9NRX4-1.90.90", "start_pos": 90, "end_pos": 90, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs373801280", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373801280", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs373801280", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373801280", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs373801280", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373801280#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs373801280", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373801280", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "DCECLGGGRISHQSQDKKIH", "down_seq": "YGYSMAYGPAQHAISTEKIK", "snv": [ { "evidence": [ { "id": "rs373801280", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373801280" }, { "id": "rs373801280", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373801280" }, { "id": "rs373801280", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373801280#frequency_tab" }, { "id": "rs373801280", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373801280" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850120", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V90", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NRX4-1.91.91", "start_pos": 91, "end_pos": 91, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs376970290", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376970290", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs376970290", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376970290", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs376970290", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376970290#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs376970290", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376970290", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1848871120", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848871120", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1848871120", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1848871120#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "CECLGGGRISHQSQDKKIHV", "down_seq": "GYSMAYGPAQHAISTEKIKA", "snv": [ { "evidence": [ { "id": "rs376970290", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376970290" }, { "id": "rs376970290", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376970290" }, { "id": "rs376970290", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376970290#frequency_tab" }, { "id": "rs376970290", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376970290" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850125", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y91", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1848871120", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848871120" }, { "id": "rs1848871120", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1848871120#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850124", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y91", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1848871120", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848871120" }, { "id": "rs1848871120", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1848871120#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850124", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y91", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9NRX4-1.92.92", "start_pos": 92, "end_pos": 92, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs753422783", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753422783", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs753422783", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753422783", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs753422783", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753422783", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1335464090", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1335464090", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1335464090", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1335464090#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1335464090", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1335464090", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9NRX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "ECLGGGRISHQSQDKKIHVY", "down_seq": "YSMAYGPAQHAISTEKIKAK", "snv": [ { "evidence": [ { "id": "rs753422783", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753422783" }, { "id": "rs753422783", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753422783" }, { "id": "rs753422783", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753422783" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850127", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G92", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1335464090", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1335464090" }, { "id": "rs1335464090", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1335464090#frequency_tab" }, { "id": "rs1335464090", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1335464090" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850126", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G92", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" }, { "id": "rs1335464090", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1335464090" }, { "id": "rs1335464090", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1335464090#frequency_tab" }, { "id": "rs1335464090", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1335464090" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fructose metabolism).", "chr_id": "9", "chr_pos": "136850126", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G92", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.112.112", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q9NRX4-1.93.93", "start_pos": 93, "end_pos": 93, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NRX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1848871560", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848871560", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1848871560", "url": "https://www.ensembl.org/id/rs1848871560", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "CLGGGRISHQSQDKKIHVYG", "down_seq": "SMAYGPAQHAISTEKIKAKY", "snv": [ { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Y", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fructose metabolism).", "chr_id": "9", "chr_pos": "136850130", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Y93", "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" ] }, { "evidence": [ { "id": "rs1848871560", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848871560" }, { "id": "rs1848871560", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1848871560" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850129", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y93", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.113.113", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9NRX4-1.95.95", "start_pos": 95, "end_pos": 95, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs777440039", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777440039", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs777440039", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777440039", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs777440039", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777440039#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs777440039", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777440039", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1161318306", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1161318306", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1161318306", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1161318306", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs758268239", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758268239", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs758268239", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758268239", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs758268239", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758268239", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "GGGRISHQSQDKKIHVYGYS", "down_seq": "AYGPAQHAISTEKIKAKYPD", "snv": [ { "evidence": [ { "id": "rs777440039", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777440039" }, { "id": "rs777440039", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777440039" }, { "id": "rs777440039", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777440039#frequency_tab" }, { "id": "rs777440039", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777440039" } ], "glycoeffect": [], "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850137", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M95", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1161318306", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1161318306" }, { "id": "rs1161318306", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1161318306" } ], "glycoeffect": [], "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850136", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M95", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758268239", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758268239" }, { "id": "rs758268239", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758268239" }, { "id": "rs758268239", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758268239" } ], "glycoeffect": [], "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850135", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M95", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.115.115", "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": 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": "Q9NRX4-1.96.96", "start_pos": 96, "end_pos": 96, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NRX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1848895640", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848895640", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1848895640", "url": "https://www.ensembl.org/id/rs1848895640", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs760785064", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760785064", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs760785064", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760785064", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs760785064", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760785064#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs760785064", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760785064", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "GGRISHQSQDKKIHVYGYSM", "down_seq": "YGPAQHAISTEKIKAKYPDY", "snv": [ { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" }, { "id": "rs1848895640", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848895640" }, { "id": "rs1848895640", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1848895640" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fructose metabolism).", "chr_id": "9", "chr_pos": "136850755", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A96", "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": "rs760785064", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760785064" }, { "id": "rs760785064", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760785064" }, { "id": "rs760785064", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760785064#frequency_tab" }, { "id": "rs760785064", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760785064" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850756", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A96", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.116.116", "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": 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": "Q9NRX4-1.97.97", "start_pos": 97, "end_pos": 97, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NRX4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs754146324", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754146324", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs754146324", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754146324", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs754146324", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754146324#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs754146324", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754146324", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs766663374", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766663374", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs766663374", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766663374", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs766663374", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766663374", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "GRISHQSQDKKIHVYGYSMA", "down_seq": "GPAQHAISTEKIKAKYPDYE", "snv": [ { "evidence": [ { "id": "Q9NRX4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NRX4" }, { "id": "rs754146324", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754146324" }, { "id": "rs754146324", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754146324" }, { "id": "rs754146324", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754146324#frequency_tab" }, { "id": "rs754146324", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754146324" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fructose metabolism).", "chr_id": "9", "chr_pos": "136850759", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Y97", "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": "rs754146324", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754146324" }, { "id": "rs754146324", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754146324" }, { "id": "rs754146324", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754146324#frequency_tab" }, { "id": "rs754146324", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754146324" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850759", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y97", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766663374", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766663374" }, { "id": "rs766663374", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766663374" }, { "id": "rs766663374", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766663374" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850758", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y97", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.117.117", "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": 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": "Q9NRX4-1.98.98", "start_pos": 98, "end_pos": 98, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs765596143", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765596143", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs765596143", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765596143", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs765596143", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765596143", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs755391419", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755391419", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs755391419", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755391419", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs755391419", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755391419", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "RISHQSQDKKIHVYGYSMAY", "down_seq": "PAQHAISTEKIKAKYPDYEV", "snv": [ { "evidence": [ { "id": "rs765596143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765596143" }, { "id": "rs765596143", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765596143" }, { "id": "rs765596143", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765596143" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850762", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G98", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755391419", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755391419" }, { "id": "rs755391419", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755391419" }, { "id": "rs755391419", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755391419" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850761", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G98", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.78.78", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.118.118", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q9NRX4-1.99.99", "start_pos": 99, "end_pos": 99, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1848896344", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848896344", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1848896344", "url": "https://www.ensembl.org/id/rs1848896344", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "ISHQSQDKKIHVYGYSMAYG", "down_seq": "AQHAISTEKIKAKYPDYEVT", "snv": [ { "evidence": [ { "id": "rs1848896344", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848896344" }, { "id": "rs1848896344", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1848896344" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850765", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P99", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1848896344", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848896344" }, { "id": "rs1848896344", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1848896344" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136850765", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P99", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9NRX4-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NRX4-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NRX4-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NRX4-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NRX4-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NRX4-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NRX4-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NRX4-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NRX4-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NRX4-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NRX4-1.90.90", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NRX4-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.94.94", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.102.102", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NRX4-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NRX4-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.119.119", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9NRX4-1.9.9", "start_pos": 9, "end_pos": 9, "uniprot_canonical_ac": "Q9NRX4-1", "length": 125, "uniprot_id": "PHP14_HUMAN", "protein_name": "14 kDa phosphohistidine phosphatase", "refseq_ac": "NP_001129333", "refseq_name": "14 kDa phosphohistidine phosphatase isoform 2", "gene_name": "PHPT1", "gene_names_uniprotkb": "PHPT1; CGI-202; HSPC141; PHP14", "gene_names_refseq": "CGI-202; HEL-S-132P; HSPC141; PHP14; PHPT1; PHP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRX4", "url": "https://www.uniprot.org/uniprotkb/Q9NRX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1185863929", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1185863929", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1185863929", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1185863929#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1185863929", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1185863929", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "MAVADLAL", "down_seq": "PDVDIDSDGVFKYVLIRVHS", "snv": [ { "evidence": [ { "id": "rs1185863929", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1185863929" }, { "id": "rs1185863929", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1185863929#frequency_tab" }, { "id": "rs1185863929", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1185863929" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849455", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I9", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1185863929", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1185863929" }, { "id": "rs1185863929", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1185863929#frequency_tab" }, { "id": "rs1185863929", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1185863929" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fructose metabolism.", "chr_id": "9", "chr_pos": "136849455", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I9", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "94", "end_pos": "94" } ] }, { "type": "snv", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "104", "end_pos": "104" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_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": "Q9NRX4-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NRX4-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NRX4-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NRX4-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NRX4-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NRX4-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NRX4-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NRX4-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NRX4-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NRX4-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NRX4-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NRX4-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NRX4-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NRX4-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NRX4-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NRX4-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NRX4-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NRX4-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NRX4-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NRX4-1.21.21", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NRX4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NRX4-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NRX4-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NRX4-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NRX4-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NRX4-1.29.29", "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": 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": "Q13835-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q13835-1", "length": 747, "uniprot_id": "PKP1_HUMAN", "protein_name": "Plakophilin-1", "refseq_ac": "NP_000290", "refseq_name": "plakophilin-1 isoform 1b", "gene_name": "PKP1", "gene_names_uniprotkb": "PKP1", "gene_names_refseq": "B6P; EDSFS; PKP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Combinatorial regulation of hepatic cytoplasmic signaling and nuclear transcriptional events by the OGT/REV-ERBalpha complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Berthier A, Vinod M, Porez G, Steenackers A, Alexandre J, Yamakawa N, Gheeraert C, Ploton M, Marechal X, Dubois-Chevalier J, Hovasse A, Schaeffer-Reiss C, Cianferani S, Rolando C, Bray F, Duez H, Eeckhoute J, Lefebvre T, Staels B, Lefebvre P", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q13835", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q13835" } ], "reference": [ { "type": "PubMed", "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "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": "Q13835", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q13835" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q13835", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q13835" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] } ], "crossref": [ { "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q13835", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q13835", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "Q13835", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q13835" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "54", "end_pos": "54" } ] }, { "type": "snv", "site_list": [ { "start_pos": "183", "end_pos": "183" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "502", "end_pos": "502" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q13835-1.4.4", "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": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q13835-1.118.118", "start_pos": 118, "end_pos": 118, "uniprot_canonical_ac": "Q13835-1", "length": 747, "uniprot_id": "PKP1_HUMAN", "protein_name": "Plakophilin-1", "refseq_ac": "NP_000290", "refseq_name": "plakophilin-1 isoform 1b", "gene_name": "PKP1", "gene_names_uniprotkb": "PKP1", "gene_names_refseq": "B6P; EDSFS; PKP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "14-3-3 proteins regulate desmosomal adhesion via plakophilins.", "journal": "Journal of cell science", "date": "2018", "authors": "Rietscher K, Keil R, Jordan A, Hatzfeld M", "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" }, { "database": "iPTMnet", "id": "Q13835", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q13835" } ], "reference": [ { "type": "PubMed", "id": "29678907", "url": "https://glygen.org/publication/PubMed/29678907" } ] } ], "crossref": [ { "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "29678907", "url": "https://glygen.org/publication/PubMed/29678907", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SWGYPIYNGTLKREPDNRRF", "down_seq": "SYSQMENWSRHYPRGSCNTT", "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Reduces the interaction with YWHAG.", "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" }, { "database": "PubMed", "id": "29678907", "url": "https://glygen.org/publication/PubMed/29678907" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PKB/AKT2", "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" } ], "site_lbl": "Ser118" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "54", "end_pos": "54" } ] }, { "type": "snv", "site_list": [ { "start_pos": "183", "end_pos": "183" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "502", "end_pos": "502" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q13835-1.119.119", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q13835-1.121.121", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q13835-1.119.119", "start_pos": 119, "end_pos": 119, "uniprot_canonical_ac": "Q13835-1", "length": 747, "uniprot_id": "PKP1_HUMAN", "protein_name": "Plakophilin-1", "refseq_ac": "NP_000290", "refseq_name": "plakophilin-1 isoform 1b", "gene_name": "PKP1", "gene_names_uniprotkb": "PKP1", "gene_names_refseq": "B6P; EDSFS; PKP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "14-3-3 proteins regulate desmosomal adhesion via plakophilins.", "journal": "Journal of cell science", "date": "2018", "authors": "Rietscher K, Keil R, Jordan A, Hatzfeld M", "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" }, { "database": "iPTMnet", "id": "Q13835", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q13835" } ], "reference": [ { "type": "PubMed", "id": "29678907", "url": "https://glygen.org/publication/PubMed/29678907" } ] } ], "crossref": [ { "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "29678907", "url": "https://glygen.org/publication/PubMed/29678907", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "WGYPIYNGTLKREPDNRRFS", "down_seq": "YSQMENWSRHYPRGSCNTTG", "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Reduces the interaction with YWHAG.", "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" }, { "database": "PubMed", "id": "29678907", "url": "https://glygen.org/publication/PubMed/29678907" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" } ], "site_lbl": "Ser119" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "54", "end_pos": "54" } ] }, { "type": "snv", "site_list": [ { "start_pos": "183", "end_pos": "183" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "502", "end_pos": "502" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q13835-1.118.118", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q13835-1.121.121", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q13835-1.155.155", "start_pos": 155, "end_pos": 155, "uniprot_canonical_ac": "Q13835-1", "length": 747, "uniprot_id": "PKP1_HUMAN", "protein_name": "Plakophilin-1", "refseq_ac": "NP_000290", "refseq_name": "plakophilin-1 isoform 1b", "gene_name": "PKP1", "gene_names_uniprotkb": "PKP1", "gene_names_refseq": "B6P; EDSFS; PKP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "14-3-3 proteins regulate desmosomal adhesion via plakophilins.", "journal": "Journal of cell science", "date": "2018", "authors": "Rietscher K, Keil R, Jordan A, Hatzfeld M", "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" }, { "database": "iPTMnet", "id": "Q13835", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q13835" } ], "reference": [ { "type": "PubMed", "id": "29678907", "url": "https://glygen.org/publication/PubMed/29678907" } ] } ], "crossref": [ { "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "29678907", "url": "https://glygen.org/publication/PubMed/29678907", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q13835", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q13835", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "CNTTGAGSDICFMQKIKASR", "down_seq": "EPDLYCDPRGTLRKGTLGSK", "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes interaction with YWHAG.", "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" }, { "database": "PubMed", "id": "29678907", "url": "https://glygen.org/publication/PubMed/29678907" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q13835", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q13835" }, { "database": "PubMed", "id": "29678907", "url": "https://glygen.org/publication/PubMed/29678907" } ], "site_lbl": "Ser155" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "54", "end_pos": "54" } ] }, { "type": "snv", "site_list": [ { "start_pos": "183", "end_pos": "183" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "502", "end_pos": "502" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q13835-1.142.142", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q13835-1.171.171", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q13835-1.171.171", "start_pos": 171, "end_pos": 171, "uniprot_canonical_ac": "Q13835-1", "length": 747, "uniprot_id": "PKP1_HUMAN", "protein_name": "Plakophilin-1", "refseq_ac": "NP_000290", "refseq_name": "plakophilin-1 isoform 1b", "gene_name": "PKP1", "gene_names_uniprotkb": "PKP1", "gene_names_refseq": "B6P; EDSFS; PKP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "14-3-3 proteins regulate desmosomal adhesion via plakophilins.", "journal": "Journal of cell science", "date": "2018", "authors": "Rietscher K, Keil R, Jordan A, Hatzfeld M", "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" }, { "database": "iPTMnet", "id": "Q13835", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q13835" } ], "reference": [ { "type": "PubMed", "id": "29678907", "url": "https://glygen.org/publication/PubMed/29678907" } ] } ], "crossref": [ { "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "29678907", "url": "https://glygen.org/publication/PubMed/29678907", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KASRSEPDLYCDPRGTLRKG", "down_seq": "LGSKGQKTTQNRYSFYSTCS", "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "No effect on interaction with YWHAG.", "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" }, { "database": "PubMed", "id": "29678907", "url": "https://glygen.org/publication/PubMed/29678907" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "54", "end_pos": "54" } ] }, { "type": "snv", "site_list": [ { "start_pos": "183", "end_pos": "183" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "502", "end_pos": "502" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q13835-1.155.155", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q13835-1.183.183", "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": "Q13835-1.54.54", "start_pos": 54, "end_pos": 54, "uniprot_canonical_ac": "Q13835-1", "length": 747, "uniprot_id": "PKP1_HUMAN", "protein_name": "Plakophilin-1", "refseq_ac": "NP_000290", "refseq_name": "plakophilin-1 isoform 1b", "gene_name": "PKP1", "gene_names_uniprotkb": "PKP1", "gene_names_refseq": "B6P; EDSFS; PKP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "14-3-3 proteins regulate desmosomal adhesion via plakophilins.", "journal": "Journal of cell science", "date": "2018", "authors": "Rietscher K, Keil R, Jordan A, Hatzfeld M", "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" }, { "database": "iPTMnet", "id": "Q13835", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q13835" } ], "reference": [ { "type": "PubMed", "id": "29678907", "url": "https://glygen.org/publication/PubMed/29678907" } ] } ], "crossref": [ { "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "29678907", "url": "https://glygen.org/publication/PubMed/29678907", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GTSGRQRVQEQVMMTVKRQK", "down_seq": "KSSQSSTLSHSNRGSMYDGL", "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on interaction with YWHAG.", "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" }, { "database": "PubMed", "id": "29678907", "url": "https://glygen.org/publication/PubMed/29678907" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "54", "end_pos": "54" } ] }, { "type": "snv", "site_list": [ { "start_pos": "183", "end_pos": "183" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "502", "end_pos": "502" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" } ] } ], "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": "Q13835-1.183.183", "start_pos": 183, "end_pos": 183, "uniprot_canonical_ac": "Q13835-1", "length": 747, "uniprot_id": "PKP1_HUMAN", "protein_name": "Plakophilin-1", "refseq_ac": "NP_000290", "refseq_name": "plakophilin-1 isoform 1b", "gene_name": "PKP1", "gene_names_uniprotkb": "PKP1", "gene_names_refseq": "B6P; EDSFS; PKP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13835", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13835", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PRGTLRKGTLGSKGQKTTQN", "down_seq": "YSFYSTCSGQKAIKKCPVRP", "snv": [ { "evidence": [ { "id": "Q13835", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13835" } ], "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": "1", "chr_pos": "201313406", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R183", "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" ] }, { "evidence": [ { "id": "Q13835", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13835" } ], "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": "1", "chr_pos": "201313407", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R183", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "54", "end_pos": "54" } ] }, { "type": "snv", "site_list": [ { "start_pos": "183", "end_pos": "183" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "502", "end_pos": "502" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q13835-1.171.171", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q13835-1.202.202", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q13835-1.202.202", "start_pos": 202, "end_pos": 202, "uniprot_canonical_ac": "Q13835-1", "length": 747, "uniprot_id": "PKP1_HUMAN", "protein_name": "Plakophilin-1", "refseq_ac": "NP_000290", "refseq_name": "plakophilin-1 isoform 1b", "gene_name": "PKP1", "gene_names_uniprotkb": "PKP1", "gene_names_refseq": "B6P; EDSFS; PKP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13835", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13835", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NRYSFYSTCSGQKAIKKCPV", "down_seq": "PPSCASKQDPVYIPPISCNK", "snv": [ { "evidence": [ { "id": "Q13835", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13835" } ], "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": "1", "chr_pos": "201313463", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R202", "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": "mutagenesis", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "54", "end_pos": "54" } ] }, { "type": "snv", "site_list": [ { "start_pos": "183", "end_pos": "183" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "502", "end_pos": "502" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q13835-1.183.183", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q13835-1.214.214", "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": "Q13835-1.312.312", "start_pos": 312, "end_pos": 312, "uniprot_canonical_ac": "Q13835-1", "length": 747, "uniprot_id": "PKP1_HUMAN", "protein_name": "Plakophilin-1", "refseq_ac": "NP_000290", "refseq_name": "plakophilin-1 isoform 1b", "gene_name": "PKP1", "gene_names_uniprotkb": "PKP1", "gene_names_refseq": "B6P; EDSFS; PKP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13835", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13835", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LVDLLRSPNQNVQQAAAGAL", "down_seq": "NLVFRSTTNKLETRRQNGIR", "snv": [ { "evidence": [ { "id": "Q13835", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13835" } ], "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": "1", "chr_pos": "201317659", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R312", "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: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": "mutagenesis", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "54", "end_pos": "54" } ] }, { "type": "snv", "site_list": [ { "start_pos": "183", "end_pos": "183" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "502", "end_pos": "502" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q13835-1.318.318", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13835-1.318.318", "start_pos": 318, "end_pos": 318, "uniprot_canonical_ac": "Q13835-1", "length": 747, "uniprot_id": "PKP1_HUMAN", "protein_name": "Plakophilin-1", "refseq_ac": "NP_000290", "refseq_name": "plakophilin-1 isoform 1b", "gene_name": "PKP1", "gene_names_uniprotkb": "PKP1", "gene_names_refseq": "B6P; EDSFS; PKP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13835", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13835", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SPNQNVQQAAAGALRNLVFR", "down_seq": "TTNKLETRRQNGIREAVSLL", "snv": [ { "evidence": [ { "id": "Q13835", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13835" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "201317678", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S318", "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": "mutagenesis", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "54", "end_pos": "54" } ] }, { "type": "snv", "site_list": [ { "start_pos": "183", "end_pos": "183" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "502", "end_pos": "502" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q13835-1.312.312", "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": "Q13835-1.441.441", "start_pos": 441, "end_pos": 441, "uniprot_canonical_ac": "Q13835-1", "length": 747, "uniprot_id": "PKP1_HUMAN", "protein_name": "Plakophilin-1", "refseq_ac": "NP_000290", "refseq_name": "plakophilin-1 isoform 1b", "gene_name": "PKP1", "gene_names_uniprotkb": "PKP1", "gene_names_refseq": "B6P; EDSFS; PKP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13835", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13835", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ALVPQRATSSRVNLSSADAG", "down_seq": "QTMRNYSGLIDSLMAYVQNC", "snv": [ { "evidence": [ { "id": "Q13835", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13835" } ], "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": "1", "chr_pos": "201320292", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R441", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "54", "end_pos": "54" } ] }, { "type": "snv", "site_list": [ { "start_pos": "183", "end_pos": "183" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "502", "end_pos": "502" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13835-1.493.493", "start_pos": 493, "end_pos": 493, "uniprot_canonical_ac": "Q13835-1", "length": 747, "uniprot_id": "PKP1_HUMAN", "protein_name": "Plakophilin-1", "refseq_ac": "NP_000290", "refseq_name": "plakophilin-1 isoform 1b", "gene_name": "PKP1", "gene_names_uniprotkb": "PKP1", "gene_names_refseq": "B6P; EDSFS; PKP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13835", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13835", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ENCMCVLHNLSYRLDAEVPT", "down_seq": "YRQLEYNARNAYTEKSSTGC", "snv": [ { "evidence": [ { "id": "Q13835", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13835" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "201322045", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R493", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "54", "end_pos": "54" } ] }, { "type": "snv", "site_list": [ { "start_pos": "183", "end_pos": "183" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "502", "end_pos": "502" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q13835-1.492.492", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q13835-1.499.499", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q13835-1.502.502", "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": "Q13835-1.502.502", "start_pos": 502, "end_pos": 502, "uniprot_canonical_ac": "Q13835-1", "length": 747, "uniprot_id": "PKP1_HUMAN", "protein_name": "Plakophilin-1", "refseq_ac": "NP_000290", "refseq_name": "plakophilin-1 isoform 1b", "gene_name": "PKP1", "gene_names_uniprotkb": "PKP1", "gene_names_refseq": "B6P; EDSFS; PKP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13835", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13835", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LSYRLDAEVPTRYRQLEYNA", "down_seq": "NAYTEKSSTGCFSNKSDKMM", "snv": [ { "evidence": [ { "id": "Q13835", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13835" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "201322072", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R502", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "54", "end_pos": "54" } ] }, { "type": "snv", "site_list": [ { "start_pos": "183", "end_pos": "183" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "502", "end_pos": "502" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q13835-1.492.492", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q13835-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q13835-1.499.499", "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": "Q13835-1.121.121", "start_pos": 121, "end_pos": 121, "uniprot_canonical_ac": "Q13835-1", "length": 747, "uniprot_id": "PKP1_HUMAN", "protein_name": "Plakophilin-1", "refseq_ac": "NP_000290", "refseq_name": "plakophilin-1 isoform 1b", "gene_name": "PKP1", "gene_names_uniprotkb": "PKP1", "gene_names_refseq": "B6P; EDSFS; PKP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "YPIYNGTLKREPDNRRFSSY", "down_seq": "QMENWSRHYPRGSCNTTGAG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" } ], "site_lbl": "Ser121" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "54", "end_pos": "54" } ] }, { "type": "snv", "site_list": [ { "start_pos": "183", "end_pos": "183" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "502", "end_pos": "502" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q13835-1.118.118", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q13835-1.119.119", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13835-1.142.142", "start_pos": 142, "end_pos": 142, "uniprot_canonical_ac": "Q13835-1", "length": 747, "uniprot_id": "PKP1_HUMAN", "protein_name": "Plakophilin-1", "refseq_ac": "NP_000290", "refseq_name": "plakophilin-1 isoform 1b", "gene_name": "PKP1", "gene_names_uniprotkb": "PKP1", "gene_names_refseq": "B6P; EDSFS; PKP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QMENWSRHYPRGSCNTTGAG", "down_seq": "DICFMQKIKASRSEPDLYCD", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" } ], "site_lbl": "Ser142" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "54", "end_pos": "54" } ] }, { "type": "snv", "site_list": [ { "start_pos": "183", "end_pos": "183" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "502", "end_pos": "502" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "Q13835-1.155.155", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13835-1.214.214", "start_pos": 214, "end_pos": 214, "uniprot_canonical_ac": "Q13835-1", "length": 747, "uniprot_id": "PKP1_HUMAN", "protein_name": "Plakophilin-1", "refseq_ac": "NP_000290", "refseq_name": "plakophilin-1 isoform 1b", "gene_name": "PKP1", "gene_names_uniprotkb": "PKP1", "gene_names_refseq": "B6P; EDSFS; PKP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer.", "journal": "Cell", "date": "2007", "authors": "Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, Nardone J, Lee K, Reeves C, Li Y, Hu Y, Tan Z, Stokes M, Sullivan L, Mitchell J, Wetzel R, Macneill J, Ren JM, Yuan J, Bakalarski CE, Villen J, Kornhauser JM, Smith B, Li D, Zhou X, Gygi SP, Gu TL, Polakiewicz RD, Rush J, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "Q13835-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q13835-1" } ], "reference": [ { "type": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ] } ], "crossref": [ { "id": "Q13835", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q13835", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "KAIKKCPVRPPSCASKQDPV", "down_seq": "IPPISCNKDLSFGHSRASSK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q13835", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q13835" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ], "site_lbl": "Tyr214" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "54", "end_pos": "54" } ] }, { "type": "snv", "site_list": [ { "start_pos": "183", "end_pos": "183" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "502", "end_pos": "502" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q13835-1.202.202", "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": "Q13835-1.492.492", "start_pos": 492, "end_pos": 492, "uniprot_canonical_ac": "Q13835-1", "length": 747, "uniprot_id": "PKP1_HUMAN", "protein_name": "Plakophilin-1", "refseq_ac": "NP_000290", "refseq_name": "plakophilin-1 isoform 1b", "gene_name": "PKP1", "gene_names_uniprotkb": "PKP1", "gene_names_refseq": "B6P; EDSFS; PKP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" } ], "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": "Q13835-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q13835-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q13835", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q13835", "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": "VENCMCVLHNLSYRLDAEVP", "down_seq": "RYRQLEYNARNAYTEKSSTG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q13835", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q13835" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr492" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "54", "end_pos": "54" } ] }, { "type": "snv", "site_list": [ { "start_pos": "183", "end_pos": "183" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "502", "end_pos": "502" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q13835-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q13835-1.499.499", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q13835-1.502.502", "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": "Q13835-1.499.499", "start_pos": 499, "end_pos": 499, "uniprot_canonical_ac": "Q13835-1", "length": 747, "uniprot_id": "PKP1_HUMAN", "protein_name": "Plakophilin-1", "refseq_ac": "NP_000290", "refseq_name": "plakophilin-1 isoform 1b", "gene_name": "PKP1", "gene_names_uniprotkb": "PKP1", "gene_names_refseq": "B6P; EDSFS; PKP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer.", "journal": "Cell", "date": "2007", "authors": "Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, Nardone J, Lee K, Reeves C, Li Y, Hu Y, Tan Z, Stokes M, Sullivan L, Mitchell J, Wetzel R, Macneill J, Ren JM, Yuan J, Bakalarski CE, Villen J, Kornhauser JM, Smith B, Li D, Zhou X, Gygi SP, Gu TL, Polakiewicz RD, Rush J, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "Q13835-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q13835-1" } ], "reference": [ { "type": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ] } ], "crossref": [ { "id": "Q13835", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q13835", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "LHNLSYRLDAEVPTRYRQLE", "down_seq": "NARNAYTEKSSTGCFSNKSD", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q13835", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q13835" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ], "site_lbl": "Tyr499" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "54", "end_pos": "54" } ] }, { "type": "snv", "site_list": [ { "start_pos": "183", "end_pos": "183" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "502", "end_pos": "502" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q13835-1.492.492", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q13835-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q13835-1.502.502", "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": "Q13835-1.4.4", "start_pos": 4, "end_pos": 4, "uniprot_canonical_ac": "Q13835-1", "length": 747, "uniprot_id": "PKP1_HUMAN", "protein_name": "Plakophilin-1", "refseq_ac": "NP_000290", "refseq_name": "plakophilin-1 isoform 1b", "gene_name": "PKP1", "gene_names_uniprotkb": "PKP1", "gene_names_refseq": "B6P; EDSFS; PKP1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MNH", "down_seq": "PLKTALAYECFQDQDNSTLA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q13835", "url": "https://www.uniprot.org/uniprotkb/Q13835" } ], "site_lbl": "Ser4" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "54", "end_pos": "54" } ] }, { "type": "snv", "site_list": [ { "start_pos": "183", "end_pos": "183" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "502", "end_pos": "502" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "4", "end_pos": "4" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q13835-1.0.0", "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": 0 } ], "sort_fields": [] } ] }, { "id": "Q99500-1.15.15", "start_pos": 15, "end_pos": 15, "uniprot_canonical_ac": "Q99500-1", "length": 378, "uniprot_id": "S1PR3_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 3", "refseq_ac": "NP_005217", "refseq_name": "sphingosine 1-phosphate receptor 3", "gene_name": "S1PR3", "gene_names_uniprotkb": "S1PR3; C9orf108; C9orf47; EDG3", "gene_names_refseq": "C9orf108; C9orf47; EDG-3; EDG3; LPB3; S1P3; S1PR3; bA791O21.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99500", "url": "https://www.uniprot.org/uniprotkb/Q99500" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q99500", "url": "https://www.uniprot.org/uniprotkb/Q99500", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q99500", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q99500", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1359673024", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1359673024", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1359673024", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1359673024#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1359673024", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1359673024", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs753858410", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753858410", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs753858410", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753858410", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs753858410", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753858410#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs753858410", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753858410", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "MATALPPRLQPVRG", "down_seq": "ETLREHYQYVGKLAGRLKEA", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn15", "evidence": [ { "id": "Q99500", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99500#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "Q99500", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q99500" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NET->HET).", "chr_id": "9", "chr_pos": "89001243", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N15", "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" ] }, { "evidence": [ { "id": "rs1359673024", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1359673024" }, { "id": "rs1359673024", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1359673024#frequency_tab" }, { "id": "rs1359673024", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1359673024" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NET->IET).", "chr_id": "9", "chr_pos": "89001244", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N15", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753858410", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753858410" }, { "id": "rs753858410", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753858410" }, { "id": "rs753858410", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753858410#frequency_tab" }, { "id": "rs753858410", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753858410" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NET->KET).", "chr_id": "9", "chr_pos": "89001245", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N15", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "15", "end_pos": "15" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "82", "end_pos": "82" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "326", "end_pos": "326" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q99500-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q99500-1.17.17", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q99500-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q99500-1", "length": 378, "uniprot_id": "S1PR3_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 3", "refseq_ac": "NP_005217", "refseq_name": "sphingosine 1-phosphate receptor 3", "gene_name": "S1PR3", "gene_names_uniprotkb": "S1PR3; C9orf108; C9orf47; EDG3", "gene_names_refseq": "C9orf108; C9orf47; EDG-3; EDG3; LPB3; S1P3; S1PR3; bA791O21.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99500", "url": "https://www.uniprot.org/uniprotkb/Q99500" } ], "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": "Q99500", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99500" } ], "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": "Q99500", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99500", "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": "Q99500", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99500" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "15", "end_pos": "15" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "82", "end_pos": "82" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "326", "end_pos": "326" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "upstream", "id": "Q99500-1.15.15", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q99500-1.17.17", "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": "Q99500-1.101.101", "start_pos": 101, "end_pos": 101, "uniprot_canonical_ac": "Q99500-1", "length": 378, "uniprot_id": "S1PR3_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 3", "refseq_ac": "NP_005217", "refseq_name": "sphingosine 1-phosphate receptor 3", "gene_name": "S1PR3", "gene_names_uniprotkb": "S1PR3; C9orf108; C9orf47; EDG3", "gene_names_refseq": "C9orf108; C9orf47; EDG-3; EDG3; LPB3; S1P3; S1PR3; bA791O21.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99500", "url": "https://www.uniprot.org/uniprotkb/Q99500" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q99500", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q99500", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LALCDLLAGIAYKVNILMSG", "down_seq": "KTFSLSPTVWFLREGSMFVA", "snv": [ { "evidence": [ { "id": "Q99500", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q99500" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KKT->NKT).", "chr_id": "9", "chr_pos": "89001503", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K101", "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": "15", "end_pos": "15" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "82", "end_pos": "82" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "326", "end_pos": "326" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q99500-1.82.82", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q99500-1.124.124", "start_pos": 124, "end_pos": 124, "uniprot_canonical_ac": "Q99500-1", "length": 378, "uniprot_id": "S1PR3_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 3", "refseq_ac": "NP_005217", "refseq_name": "sphingosine 1-phosphate receptor 3", "gene_name": "S1PR3", "gene_names_uniprotkb": "S1PR3; C9orf108; C9orf47; EDG3", "gene_names_refseq": "C9orf108; C9orf47; EDG-3; EDG3; LPB3; S1P3; S1PR3; bA791O21.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99500", "url": "https://www.uniprot.org/uniprotkb/Q99500" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q99500", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q99500", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "FSLSPTVWFLREGSMFVALG", "down_seq": "STCSLLAIAIERHLTMIKMR", "snv": [ { "evidence": [ { "id": "Q99500", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q99500" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "9", "chr_pos": "89001571", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A124", "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" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "15", "end_pos": "15" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "82", "end_pos": "82" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "326", "end_pos": "326" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q99500-1.17.17", "start_pos": 17, "end_pos": 17, "uniprot_canonical_ac": "Q99500-1", "length": 378, "uniprot_id": "S1PR3_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 3", "refseq_ac": "NP_005217", "refseq_name": "sphingosine 1-phosphate receptor 3", "gene_name": "S1PR3", "gene_names_uniprotkb": "S1PR3; C9orf108; C9orf47; EDG3", "gene_names_refseq": "C9orf108; C9orf47; EDG-3; EDG3; LPB3; S1P3; S1PR3; bA791O21.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99500", "url": "https://www.uniprot.org/uniprotkb/Q99500" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs568315707", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs568315707", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs568315707", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs568315707", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs568315707", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs568315707", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs568315707", "url": "http://gnomad.broadinstitute.org/awesome?query=rs568315707", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "MATALPPRLQPVRGNE", "down_seq": "LREHYQYVGKLAGRLKEASE", "snv": [ { "evidence": [ { "id": "rs568315707", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs568315707" }, { "id": "rs568315707", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs568315707" }, { "id": "rs568315707", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs568315707" }, { "id": "rs568315707", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs568315707" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NET->NEN).", "chr_id": "9", "chr_pos": "89001250", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "T17", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "15", "end_pos": "15" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "82", "end_pos": "82" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "326", "end_pos": "326" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q99500-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q99500-1.15.15", "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": "Q99500-1.223.223", "start_pos": 223, "end_pos": 223, "uniprot_canonical_ac": "Q99500-1", "length": 378, "uniprot_id": "S1PR3_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 3", "refseq_ac": "NP_005217", "refseq_name": "sphingosine 1-phosphate receptor 3", "gene_name": "S1PR3", "gene_names_uniprotkb": "S1PR3; C9orf108; C9orf47; EDG3", "gene_names_refseq": "C9orf108; C9orf47; EDG-3; EDG3; LPB3; S1P3; S1PR3; bA791O21.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99500", "url": "https://www.uniprot.org/uniprotkb/Q99500" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1825871563", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1825871563", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1825871563", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1825871563#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1825871563", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1825871563", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "IFTAILVTIVILYARIYFLV", "down_seq": "SSSRKVANHNNSERSMALLR", "snv": [ { "evidence": [ { "id": "rs1825871563", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1825871563" }, { "id": "rs1825871563", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1825871563#frequency_tab" }, { "id": "rs1825871563", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1825871563" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KSS->NSS).", "chr_id": "9", "chr_pos": "89001869", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K223", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "15", "end_pos": "15" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "82", "end_pos": "82" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "326", "end_pos": "326" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q99500-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q99500-1.237.237", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q99500-1.227.227", "start_pos": 227, "end_pos": 227, "uniprot_canonical_ac": "Q99500-1", "length": 378, "uniprot_id": "S1PR3_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 3", "refseq_ac": "NP_005217", "refseq_name": "sphingosine 1-phosphate receptor 3", "gene_name": "S1PR3", "gene_names_uniprotkb": "S1PR3; C9orf108; C9orf47; EDG3", "gene_names_refseq": "C9orf108; C9orf47; EDG-3; EDG3; LPB3; S1P3; S1PR3; bA791O21.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99500", "url": "https://www.uniprot.org/uniprotkb/Q99500" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q99500", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q99500", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ILVTIVILYARIYFLVKSSS", "down_seq": "KVANHNNSERSMALLRTVVI", "snv": [ { "evidence": [ { "id": "Q99500", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q99500" } ], "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": "9", "chr_pos": "89001879", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R227", "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": "15", "end_pos": "15" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "82", "end_pos": "82" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "326", "end_pos": "326" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q99500-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q99500-1.237.237", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q99500-1.237.237", "start_pos": 237, "end_pos": 237, "uniprot_canonical_ac": "Q99500-1", "length": 378, "uniprot_id": "S1PR3_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 3", "refseq_ac": "NP_005217", "refseq_name": "sphingosine 1-phosphate receptor 3", "gene_name": "S1PR3", "gene_names_uniprotkb": "S1PR3; C9orf108; C9orf47; EDG3", "gene_names_refseq": "C9orf108; C9orf47; EDG-3; EDG3; LPB3; S1P3; S1PR3; bA791O21.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99500", "url": "https://www.uniprot.org/uniprotkb/Q99500" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q99500", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q99500", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RIYFLVKSSSRKVANHNNSE", "down_seq": "SMALLRTVVIVVSVFIACWS", "snv": [ { "evidence": [ { "id": "Q99500", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q99500" } ], "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": "9", "chr_pos": "89001910", "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:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-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": "15", "end_pos": "15" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "82", "end_pos": "82" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "326", "end_pos": "326" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q99500-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q99500-1.227.227", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q99500-1.265.265", "start_pos": 265, "end_pos": 265, "uniprot_canonical_ac": "Q99500-1", "length": 378, "uniprot_id": "S1PR3_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 3", "refseq_ac": "NP_005217", "refseq_name": "sphingosine 1-phosphate receptor 3", "gene_name": "S1PR3", "gene_names_uniprotkb": "S1PR3; C9orf108; C9orf47; EDG3", "gene_names_refseq": "C9orf108; C9orf47; EDG-3; EDG3; LPB3; S1P3; S1PR3; bA791O21.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99500", "url": "https://www.uniprot.org/uniprotkb/Q99500" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q99500", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q99500", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "VVIVVSVFIACWSPLFILFL", "down_seq": "DVACRVQACPILFKAQWFIV", "snv": [ { "evidence": [ { "id": "Q99500", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q99500" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "9", "chr_pos": "89001994", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "I265", "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: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": "15", "end_pos": "15" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "82", "end_pos": "82" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "326", "end_pos": "326" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "upstream", "id": "Q99500-1.285.285", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q99500-1.285.285", "start_pos": 285, "end_pos": 285, "uniprot_canonical_ac": "Q99500-1", "length": 378, "uniprot_id": "S1PR3_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 3", "refseq_ac": "NP_005217", "refseq_name": "sphingosine 1-phosphate receptor 3", "gene_name": "S1PR3", "gene_names_uniprotkb": "S1PR3; C9orf108; C9orf47; EDG3", "gene_names_refseq": "C9orf108; C9orf47; EDG-3; EDG3; LPB3; S1P3; S1PR3; bA791O21.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99500", "url": "https://www.uniprot.org/uniprotkb/Q99500" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q99500", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q99500", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "IDVACRVQACPILFKAQWFI", "down_seq": "LAVLNSAMNPVIYTLASKEM", "snv": [ { "evidence": [ { "id": "Q99500", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q99500" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "9", "chr_pos": "89002053", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V285", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "15", "end_pos": "15" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "82", "end_pos": "82" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "326", "end_pos": "326" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q99500-1.265.265", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q99500-1.292.292", "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": "Q99500-1.292.292", "start_pos": 292, "end_pos": 292, "uniprot_canonical_ac": "Q99500-1", "length": 378, "uniprot_id": "S1PR3_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 3", "refseq_ac": "NP_005217", "refseq_name": "sphingosine 1-phosphate receptor 3", "gene_name": "S1PR3", "gene_names_uniprotkb": "S1PR3; C9orf108; C9orf47; EDG3", "gene_names_refseq": "C9orf108; C9orf47; EDG-3; EDG3; LPB3; S1P3; S1PR3; bA791O21.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99500", "url": "https://www.uniprot.org/uniprotkb/Q99500" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs376947296", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376947296", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs376947296", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376947296", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs376947296", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376947296#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs376947296", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376947296", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs376947296", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs376947296", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "QACPILFKAQWFIVLAVLNS", "down_seq": "MNPVIYTLASKEMRRAFFRL", "snv": [ { "evidence": [ { "id": "rs376947296", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376947296" }, { "id": "rs376947296", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376947296" }, { "id": "rs376947296", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376947296#frequency_tab" }, { "id": "rs376947296", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376947296" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSA->NSS).", "chr_id": "9", "chr_pos": "89002074", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A292", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376947296", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376947296" }, { "id": "rs376947296", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376947296" }, { "id": "rs376947296", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376947296#frequency_tab" }, { "id": "rs376947296", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376947296" }, { "id": "rs376947296", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs376947296" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NSA->NST).", "chr_id": "9", "chr_pos": "89002074", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A292", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "15", "end_pos": "15" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "82", "end_pos": "82" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "326", "end_pos": "326" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q99500-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q99500-1.306.306", "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": 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": "Q99500-1.306.306", "start_pos": 306, "end_pos": 306, "uniprot_canonical_ac": "Q99500-1", "length": 378, "uniprot_id": "S1PR3_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 3", "refseq_ac": "NP_005217", "refseq_name": "sphingosine 1-phosphate receptor 3", "gene_name": "S1PR3", "gene_names_uniprotkb": "S1PR3; C9orf108; C9orf47; EDG3", "gene_names_refseq": "C9orf108; C9orf47; EDG-3; EDG3; LPB3; S1P3; S1PR3; bA791O21.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99500", "url": "https://www.uniprot.org/uniprotkb/Q99500" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q99500", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q99500", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LAVLNSAMNPVIYTLASKEM", "down_seq": "RAFFRLVCNCLVRGRGARAS", "snv": [ { "evidence": [ { "id": "Q99500", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q99500" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "9", "chr_pos": "89002116", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R306", "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": "15", "end_pos": "15" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "82", "end_pos": "82" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "326", "end_pos": "326" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q99500-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q99500-1.326.326", "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": "Q99500-1.337.337", "start_pos": 337, "end_pos": 337, "uniprot_canonical_ac": "Q99500-1", "length": 378, "uniprot_id": "S1PR3_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 3", "refseq_ac": "NP_005217", "refseq_name": "sphingosine 1-phosphate receptor 3", "gene_name": "S1PR3", "gene_names_uniprotkb": "S1PR3; C9orf108; C9orf47; EDG3", "gene_names_refseq": "C9orf108; C9orf47; EDG-3; EDG3; LPB3; S1P3; S1PR3; bA791O21.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99500", "url": "https://www.uniprot.org/uniprotkb/Q99500" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1283844482", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1283844482", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1283844482", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1283844482", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LVRGRGARASPIQPALDPSR", "down_seq": "KSSSSNNSSHSPKVKEDLPH", "snv": [ { "evidence": [ { "id": "rs1283844482", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1283844482" }, { "id": "rs1283844482", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1283844482" } ], "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": "9", "chr_pos": "89002210", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S337", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "15", "end_pos": "15" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "82", "end_pos": "82" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "326", "end_pos": "326" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q99500-1.326.326", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q99500-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q99500-1.346.346", "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": "Q99500-1.340.340", "start_pos": 340, "end_pos": 340, "uniprot_canonical_ac": "Q99500-1", "length": 378, "uniprot_id": "S1PR3_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 3", "refseq_ac": "NP_005217", "refseq_name": "sphingosine 1-phosphate receptor 3", "gene_name": "S1PR3", "gene_names_uniprotkb": "S1PR3; C9orf108; C9orf47; EDG3", "gene_names_refseq": "C9orf108; C9orf47; EDG-3; EDG3; LPB3; S1P3; S1PR3; bA791O21.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99500", "url": "https://www.uniprot.org/uniprotkb/Q99500" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs751687068", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751687068", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs751687068", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751687068", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs751687068", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751687068#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs751687068", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751687068", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GRGARASPIQPALDPSRSKS", "down_seq": "SSNNSSHSPKVKEDLPHTAP", "snv": [ { "evidence": [ { "id": "rs751687068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751687068" }, { "id": "rs751687068", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751687068" }, { "id": "rs751687068", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751687068#frequency_tab" }, { "id": "rs751687068", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751687068" } ], "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": "9", "chr_pos": "89002219", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S340", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "15", "end_pos": "15" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "82", "end_pos": "82" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "326", "end_pos": "326" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q99500-1.326.326", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q99500-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q99500-1.346.346", "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": "Q99500-1.346.346", "start_pos": 346, "end_pos": 346, "uniprot_canonical_ac": "Q99500-1", "length": 378, "uniprot_id": "S1PR3_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 3", "refseq_ac": "NP_005217", "refseq_name": "sphingosine 1-phosphate receptor 3", "gene_name": "S1PR3", "gene_names_uniprotkb": "S1PR3; C9orf108; C9orf47; EDG3", "gene_names_refseq": "C9orf108; C9orf47; EDG-3; EDG3; LPB3; S1P3; S1PR3; bA791O21.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99500", "url": "https://www.uniprot.org/uniprotkb/Q99500" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q99500", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q99500", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SPIQPALDPSRSKSSSSNNS", "down_seq": "HSPKVKEDLPHTAPSSCIMD", "snv": [ { "evidence": [ { "id": "Q99500", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q99500" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SHS->NHS).", "chr_id": "9", "chr_pos": "89002237", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S346", "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": "15", "end_pos": "15" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "82", "end_pos": "82" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "326", "end_pos": "326" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q99500-1.326.326", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q99500-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q99500-1.340.340", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q99500-1.375.375", "start_pos": 375, "end_pos": 375, "uniprot_canonical_ac": "Q99500-1", "length": 378, "uniprot_id": "S1PR3_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 3", "refseq_ac": "NP_005217", "refseq_name": "sphingosine 1-phosphate receptor 3", "gene_name": "S1PR3", "gene_names_uniprotkb": "S1PR3; C9orf108; C9orf47; EDG3", "gene_names_refseq": "C9orf108; C9orf47; EDG-3; EDG3; LPB3; S1P3; S1PR3; bA791O21.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99500", "url": "https://www.uniprot.org/uniprotkb/Q99500" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1825880185", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1825880185", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1825880185", "url": "https://www.ensembl.org/id/rs1825880185", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "LPHTAPSSCIMDKNAALQNG", "down_seq": "FCN", "snv": [ { "evidence": [ { "id": "rs1825880185", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1825880185" }, { "id": "rs1825880185", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1825880185" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGI->NGT).", "chr_id": "9", "chr_pos": "89002324", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I375", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "15", "end_pos": "15" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "82", "end_pos": "82" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "326", "end_pos": "326" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q99500-1.82.82", "start_pos": 82, "end_pos": 82, "uniprot_canonical_ac": "Q99500-1", "length": 378, "uniprot_id": "S1PR3_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 3", "refseq_ac": "NP_005217", "refseq_name": "sphingosine 1-phosphate receptor 3", "gene_name": "S1PR3", "gene_names_uniprotkb": "S1PR3; C9orf108; C9orf47; EDG3", "gene_names_refseq": "C9orf108; C9orf47; EDG-3; EDG3; LPB3; S1P3; S1PR3; bA791O21.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99500", "url": "https://www.uniprot.org/uniprotkb/Q99500" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1450519711", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1450519711", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1450519711", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1450519711#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "IAIWKNNKFHNRMYFFIGNL", "down_seq": "LCDLLAGIAYKVNILMSGKK", "snv": [ { "evidence": [ { "id": "rs1450519711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1450519711" }, { "id": "rs1450519711", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1450519711#frequency_tab" } ], "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": "9", "chr_pos": "89001444", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A82", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1450519711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1450519711" }, { "id": "rs1450519711", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1450519711#frequency_tab" } ], "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": "9", "chr_pos": "89001444", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A82", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "15", "end_pos": "15" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "82", "end_pos": "82" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "326", "end_pos": "326" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "Q99500-1.101.101", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "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": "Q99500-1.326.326", "start_pos": 326, "end_pos": 326, "uniprot_canonical_ac": "Q99500-1", "length": 378, "uniprot_id": "S1PR3_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 3", "refseq_ac": "NP_005217", "refseq_name": "sphingosine 1-phosphate receptor 3", "gene_name": "S1PR3", "gene_names_uniprotkb": "S1PR3; C9orf108; C9orf47; EDG3", "gene_names_refseq": "C9orf108; C9orf47; EDG-3; EDG3; LPB3; S1P3; S1PR3; bA791O21.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99500", "url": "https://www.uniprot.org/uniprotkb/Q99500" } ], "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": "Q99500", "url": "https://www.uniprot.org/uniprotkb/Q99500" }, { "database": "iPTMnet", "id": "Q99500", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99500" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "TiO(2)-based phosphoproteomic analysis of the plasma membrane and the effects of phosphatase inhibitor treatment.", "journal": "Journal of proteome research", "date": "2008", "authors": "Thingholm TE, Larsen MR, Ingrell CR, Kassem M, Jensen ON", "evidence": [ { "database": "iPTMnet", "id": "Q99500", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99500" } ], "reference": [ { "type": "PubMed", "id": "18578522", "url": "https://glygen.org/publication/PubMed/18578522" } ] } ], "crossref": [ { "id": "Q99500", "url": "https://www.uniprot.org/uniprotkb/Q99500", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q99500", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99500", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18578522", "url": "https://glygen.org/publication/PubMed/18578522", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RRAFFRLVCNCLVRGRGARA", "down_seq": "PIQPALDPSRSKSSSSNNSS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q99500", "url": "https://www.uniprot.org/uniprotkb/Q99500" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q99500", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99500" }, { "database": "PubMed", "id": "18578522", "url": "https://glygen.org/publication/PubMed/18578522" } ], "site_lbl": "Ser326" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "15", "end_pos": "15" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "82", "end_pos": "82" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "326", "end_pos": "326" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q99500-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q99500-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q99500-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q99500-1.346.346", "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": "Q9HD15-1.69.69", "start_pos": 69, "end_pos": 69, "uniprot_canonical_ac": "Q9HD15-1", "length": 224, "uniprot_id": "SRA1_HUMAN", "protein_name": "Steroid receptor RNA activator 1", "refseq_ac": "NP_001030312", "refseq_name": "steroid receptor RNA activator 1 isoform 1", "gene_name": "SRA1", "gene_names_uniprotkb": "SRA1; PP7684", "gene_names_refseq": "SRA1; SRAP; SRA; STRAA1; pp7684", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HD15", "url": "https://www.uniprot.org/uniprotkb/Q9HD15" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Aspartate Residues Far from the Active Site Drive O-GlcNAc Transferase Substrate Selection.", "journal": "Journal of the American Chemical Society", "date": "2019", "authors": "Joiner CM, Levine ZG, Aonbangkhen C, Woo CM, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9HD15", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HD15" }, { "database": "O-GlcNAc Atlas", "id": "Q9HD15", "url": "https://oglcnac.org/atlas/detail/Q9HD15" } ], "reference": [ { "type": "PubMed", "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "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": "Q9HD15", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HD15" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "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": "Q9HD15", "url": "https://www.uniprot.org/uniprotkb/Q9HD15" }, { "database": "iPTMnet", "id": "Q9HD15", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HD15" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Phosphoproteomic analysis of distinct tumor cell lines in response to nocodazole treatment.", "journal": "Proteomics", "date": "2009", "authors": "Nagano K, Shinkawa T, Mutoh H, Kondoh O, Morimoto S, Inomata N, Ashihara M, Ishii N, Aoki Y, Haramura M", "evidence": [ { "database": "iPTMnet", "id": "Q9HD15", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HD15" } ], "reference": [ { "type": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" } ] }, { "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": "Q9HD15", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HD15" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HD15", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HD15", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HD15", "url": "https://oglcnac.org/atlas/detail/Q9HD15", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q9HD15", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HD15", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658", "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": "PRVPASETSPGPPPMGPPPP", "down_seq": "SKAPRSPPVGSGPASGVEPT", "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": "Ser69", "evidence": [ { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "Q9HD15", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HD15" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "Q9HD15", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9HD15" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9HD15", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HD15" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser69" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "69", "end_pos": "69" } ] }, { "type": "snv", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "46", "end_pos": "46" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "48", "end_pos": "48" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "75", "end_pos": "75" } ] } ], "categories": [ "glycosylation_flag", "phosphorylation_flag" ], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q9HD15-1.57.57", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9HD15-1.75.75", "categories": [ "phosphorylation_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": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9HD15-1.18.18", "start_pos": 18, "end_pos": 18, "uniprot_canonical_ac": "Q9HD15-1", "length": 224, "uniprot_id": "SRA1_HUMAN", "protein_name": "Steroid receptor RNA activator 1", "refseq_ac": "NP_001030312", "refseq_name": "steroid receptor RNA activator 1 isoform 1", "gene_name": "SRA1", "gene_names_uniprotkb": "SRA1; PP7684", "gene_names_refseq": "SRA1; SRAP; SRA; STRAA1; pp7684", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HD15", "url": "https://www.uniprot.org/uniprotkb/Q9HD15" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs777538545", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777538545", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs777538545", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777538545", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs777538545", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777538545", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "MAELYVKPGNKERGWND", "down_seq": "PQFSYGLQTQAGGPRRSLLT", "snv": [ { "evidence": [ { "id": "rs777538545", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777538545" }, { "id": "rs777538545", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777538545" }, { "id": "rs777538545", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777538545" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDP->NDS).", "chr_id": "5", "chr_pos": "140557246", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P18", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "69", "end_pos": "69" } ] }, { "type": "snv", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "46", "end_pos": "46" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "48", "end_pos": "48" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "75", "end_pos": "75" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9HD15-1.46.46", "start_pos": 46, "end_pos": 46, "uniprot_canonical_ac": "Q9HD15-1", "length": 224, "uniprot_id": "SRA1_HUMAN", "protein_name": "Steroid receptor RNA activator 1", "refseq_ac": "NP_001030312", "refseq_name": "steroid receptor RNA activator 1 isoform 1", "gene_name": "SRA1", "gene_names_uniprotkb": "SRA1; PP7684", "gene_names_refseq": "SRA1; SRAP; SRA; STRAA1; pp7684", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HD15", "url": "https://www.uniprot.org/uniprotkb/Q9HD15" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs766340861", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766340861", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs766340861", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766340861", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs766340861", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766340861#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs766340861", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766340861", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "QTQAGGPRRSLLTKRVAAPQ", "down_seq": "GSPRVPASETSPGPPPMGPP", "snv": [ { "evidence": [ { "id": "rs766340861", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766340861" }, { "id": "rs766340861", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766340861" }, { "id": "rs766340861", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766340861#frequency_tab" }, { "id": "rs766340861", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766340861" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DGS->NGS).", "chr_id": "5", "chr_pos": "140557162", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D46", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "69", "end_pos": "69" } ] }, { "type": "snv", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "46", "end_pos": "46" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "48", "end_pos": "48" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "75", "end_pos": "75" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9HD15-1.48.48", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9HD15-1.57.57", "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": "Q9HD15-1.48.48", "start_pos": 48, "end_pos": 48, "uniprot_canonical_ac": "Q9HD15-1", "length": 224, "uniprot_id": "SRA1_HUMAN", "protein_name": "Steroid receptor RNA activator 1", "refseq_ac": "NP_001030312", "refseq_name": "steroid receptor RNA activator 1 isoform 1", "gene_name": "SRA1", "gene_names_uniprotkb": "SRA1; PP7684", "gene_names_refseq": "SRA1; SRAP; SRA; STRAA1; pp7684", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HD15", "url": "https://www.uniprot.org/uniprotkb/Q9HD15" } ], "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": "Q9HD15", "url": "https://www.uniprot.org/uniprotkb/Q9HD15" }, { "database": "iPTMnet", "id": "Q9HD15", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HD15" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q9HD15", "url": "https://www.uniprot.org/uniprotkb/Q9HD15", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HD15", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HD15", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QAGGPRRSLLTKRVAAPQDG", "down_seq": "PRVPASETSPGPPPMGPPPP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9HD15", "url": "https://www.uniprot.org/uniprotkb/Q9HD15" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q9HD15", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HD15" } ], "site_lbl": "Ser48" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "69", "end_pos": "69" } ] }, { "type": "snv", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "46", "end_pos": "46" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "48", "end_pos": "48" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "75", "end_pos": "75" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9HD15-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9HD15-1.57.57", "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": "Q9HD15-1.57.57", "start_pos": 57, "end_pos": 57, "uniprot_canonical_ac": "Q9HD15-1", "length": 224, "uniprot_id": "SRA1_HUMAN", "protein_name": "Steroid receptor RNA activator 1", "refseq_ac": "NP_001030312", "refseq_name": "steroid receptor RNA activator 1 isoform 1", "gene_name": "SRA1", "gene_names_uniprotkb": "SRA1; PP7684", "gene_names_refseq": "SRA1; SRAP; SRA; STRAA1; pp7684", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HD15", "url": "https://www.uniprot.org/uniprotkb/Q9HD15" } ], "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": "Q9HD15", "url": "https://www.uniprot.org/uniprotkb/Q9HD15" }, { "database": "iPTMnet", "id": "Q9HD15", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HD15" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q9HD15", "url": "https://www.uniprot.org/uniprotkb/Q9HD15", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HD15", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HD15", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LTKRVAAPQDGSPRVPASET", "down_seq": "PGPPPMGPPPPSSKAPRSPP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9HD15", "url": "https://www.uniprot.org/uniprotkb/Q9HD15" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9HD15", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HD15" } ], "site_lbl": "Ser57" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "69", "end_pos": "69" } ] }, { "type": "snv", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "46", "end_pos": "46" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "48", "end_pos": "48" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "75", "end_pos": "75" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9HD15-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9HD15-1.48.48", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9HD15-1.69.69", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9HD15-1.75.75", "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": "Q9HD15-1.75.75", "start_pos": 75, "end_pos": 75, "uniprot_canonical_ac": "Q9HD15-1", "length": 224, "uniprot_id": "SRA1_HUMAN", "protein_name": "Steroid receptor RNA activator 1", "refseq_ac": "NP_001030312", "refseq_name": "steroid receptor RNA activator 1 isoform 1", "gene_name": "SRA1", "gene_names_uniprotkb": "SRA1; PP7684", "gene_names_refseq": "SRA1; SRAP; SRA; STRAA1; pp7684", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HD15", "url": "https://www.uniprot.org/uniprotkb/Q9HD15" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q9HD15", "url": "https://www.uniprot.org/uniprotkb/Q9HD15" }, { "database": "iPTMnet", "id": "Q9HD15", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HD15" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "Q9HD15", "url": "https://www.uniprot.org/uniprotkb/Q9HD15", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HD15", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HD15", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ETSPGPPPMGPPPPSSKAPR", "down_seq": "PPVGSGPASGVEPTSFPVES", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9HD15", "url": "https://www.uniprot.org/uniprotkb/Q9HD15" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q9HD15", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HD15" } ], "site_lbl": "Ser75" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "69", "end_pos": "69" } ] }, { "type": "snv", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "46", "end_pos": "46" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "48", "end_pos": "48" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "75", "end_pos": "75" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9HD15-1.57.57", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9HD15-1.69.69", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q08334-1.102.102", "start_pos": 102, "end_pos": 102, "uniprot_canonical_ac": "Q08334-1", "length": 325, "uniprot_id": "I10R2_HUMAN", "protein_name": "Interleukin-10 receptor subunit beta", "refseq_ac": "NP_000619", "refseq_name": "interleukin-10 receptor subunit beta isoform 1 precursor", "gene_name": "IL10RB", "gene_names_uniprotkb": "IL10RB; CRFB4; D21S58; D21S66", "gene_names_refseq": "CDW210B; CRF2-4; CRFB4; D21S58; D21S66; IBD25; IL-10R2; IL-10RB; IL10RB", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q08334", "url": "https://www.uniprot.org/uniprotkb/Q08334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q08334", "url": "https://www.uniprot.org/uniprotkb/Q08334", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "YGDHTLRVRAEFADEHSDWV", "down_seq": "ITFCPVDDTIIGPPGMQVEV", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn102", "evidence": [ { "id": "Q08334", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q08334#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "317", "end_pos": "317" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q08334-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q08334-1.104.104", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q08334-1.161.161", "start_pos": 161, "end_pos": 161, "uniprot_canonical_ac": "Q08334-1", "length": 325, "uniprot_id": "I10R2_HUMAN", "protein_name": "Interleukin-10 receptor subunit beta", "refseq_ac": "NP_000619", "refseq_name": "interleukin-10 receptor subunit beta isoform 1 precursor", "gene_name": "IL10RB", "gene_names_uniprotkb": "IL10RB; CRFB4; D21S58; D21S66", "gene_names_refseq": "CDW210B; CRF2-4; CRFB4; D21S58; D21S66; IBD25; IL-10R2; IL-10RB; IL10RB", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q08334", "url": "https://www.uniprot.org/uniprotkb/Q08334" } ], "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": "Q08334", "url": "https://www.uniprot.org/uniprotkb/Q08334", "database": "UniProtKB", "categories": [ "Protein" ] }, { "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": "rs1332856363", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1332856363", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1332856363", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1332856363", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "ETWTMKNVYNSWTYNVQYWK", "down_seq": "GTDEKFQITPQYDFEVLRNL", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn161", "evidence": [ { "id": "Q08334", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q08334#ptm_processing" }, { "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": "rs1332856363", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1332856363" }, { "id": "rs1332856363", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1332856363" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGT->SGT).", "chr_id": "21", "chr_pos": "33279902", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N161", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "317", "end_pos": "317" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q08334-1.149.149", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q08334-1.152.152", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 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": "Q08334-1.289.289", "start_pos": 289, "end_pos": 289, "uniprot_canonical_ac": "Q08334-1", "length": 325, "uniprot_id": "I10R2_HUMAN", "protein_name": "Interleukin-10 receptor subunit beta", "refseq_ac": "NP_000619", "refseq_name": "interleukin-10 receptor subunit beta isoform 1 precursor", "gene_name": "IL10RB", "gene_names_uniprotkb": "IL10RB; CRFB4; D21S58; D21S66", "gene_names_refseq": "CDW210B; CRF2-4; CRFB4; D21S58; D21S66; IBD25; IL-10R2; IL-10RB; IL10RB", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q08334", "url": "https://www.uniprot.org/uniprotkb/Q08334" } ], "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" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "FLGHPHHNTLLFFSFPLSDE", "down_seq": "DVFDKLSVIAEDSESGKQNP", "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": "Asn289", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "317", "end_pos": "317" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q08334-1.296.296", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 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": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q08334-1.49.49", "start_pos": 49, "end_pos": 49, "uniprot_canonical_ac": "Q08334-1", "length": 325, "uniprot_id": "I10R2_HUMAN", "protein_name": "Interleukin-10 receptor subunit beta", "refseq_ac": "NP_000619", "refseq_name": "interleukin-10 receptor subunit beta isoform 1 precursor", "gene_name": "IL10RB", "gene_names_uniprotkb": "IL10RB; CRFB4; D21S58; D21S66", "gene_names_refseq": "CDW210B; CRF2-4; CRFB4; D21S58; D21S66; IBD25; IL-10R2; IL-10RB; IL10RB", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q08334", "url": "https://www.uniprot.org/uniprotkb/Q08334" } ], "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": "Q08334", "url": "https://www.uniprot.org/uniprotkb/Q08334", "database": "UniProtKB", "categories": [ "Protein" ] }, { "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": "Q08334", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q08334", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs781729452", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781729452", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs781729452", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781729452", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs781729452", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781729452#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs781729452", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781729452", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "MNSVNFKNILQWESPAFAKG", "down_seq": "LTFTAQYLSYRIFQDKCMNT", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn49", "evidence": [ { "id": "Q08334", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q08334#ptm_processing" }, { "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": "Q08334", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q08334" }, { "id": "rs781729452", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781729452" }, { "id": "rs781729452", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781729452" }, { "id": "rs781729452", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781729452#frequency_tab" }, { "id": "rs781729452", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781729452" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "4799", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NLT->KLT).", "chr_id": "21", "chr_pos": "33268491", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N49", "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": "102", "end_pos": "102" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "317", "end_pos": "317" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q08334-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q08334-1.68.68", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_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": "Q08334-1.68.68", "start_pos": 68, "end_pos": 68, "uniprot_canonical_ac": "Q08334-1", "length": 325, "uniprot_id": "I10R2_HUMAN", "protein_name": "Interleukin-10 receptor subunit beta", "refseq_ac": "NP_000619", "refseq_name": "interleukin-10 receptor subunit beta isoform 1 precursor", "gene_name": "IL10RB", "gene_names_uniprotkb": "IL10RB; CRFB4; D21S58; D21S66", "gene_names_refseq": "CDW210B; CRF2-4; CRFB4; D21S58; D21S66; IBD25; IL-10R2; IL-10RB; IL10RB", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q08334", "url": "https://www.uniprot.org/uniprotkb/Q08334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] } ], "crossref": [ { "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529", "database": "DOI", "categories": [ "Other" ] }, { "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888", "database": "Data Submission", "categories": [ "Other" ] }, { "id": "Q08334", "url": "https://www.uniprot.org/uniprotkb/Q08334", "database": "UniProtKB", "categories": [ "Protein" ] }, { "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": "rs902877755", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs902877755", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs902877755", "url": "https://www.ncbi.nlm.nih.gov/snp/rs902877755#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "GNLTFTAQYLSYRIFQDKCM", "down_seq": "TTLTECDFSSLSKYGDHTLR", "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": "CMNTTLTECDFSSLSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn68", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn68", "evidence": [ { "id": "Q08334", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q08334#ptm_processing" }, { "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": "rs902877755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs902877755" }, { "id": "rs902877755", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs902877755#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NTT->ITT).", "chr_id": "21", "chr_pos": "33276625", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N68", "disease": [ { "disease_id": "DOID:0110909", "recommended_name": { "id": "DOID:0110909", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110909", "name": "inflammatory bowel disease 25", "description": "An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the IL10RB gene on chromosome 21q22." }, "synonyms": [ { "id": "DOID:0110909", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110909", "name": "IBD25", "description": "" }, { "id": "DOID:0110909", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110909", "name": "early onset autosomal recessive inflammatory bowel disease 25", "description": "" }, { "id": "MONDO:0012941", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012941", "name": "inflammatory bowel disease 25", "description": "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene." }, { "id": "MONDO:0012941", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012941", "name": "IBD25", "description": "" }, { "id": "MONDO:0012941", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012941", "name": "IL10RB inflammatory bowel disease", "description": "" }, { "id": "MONDO:0012941", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012941", "name": "inflammatory bowel disease 25, early onset, autosomal recessive", "description": "" }, { "id": "MONDO:0012941", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012941", "name": "inflammatory bowel disease caused by mutation in IL10RB", "description": "" }, { "id": "MONDO:0012941", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012941", "name": "inflammatory bowel disease type 25", "description": "" }, { "id": "MONDO:0012941", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012941", "name": "inflammatory bowel disease 25, autosomal recessive", "description": "" }, { "id": "MIM:612567", "resource": "MIM", "url": "https://www.omim.org/entry/612567", "name": "Inflammatory bowel disease 25, autosomal recessive", "description": "Inflammatory bowel disease 25, autosomal recessive" } ], "unlinked_id_list": [], "evidence": [ { "id": "612567", "database": "MIM", "url": "https://www.omim.org/entry/612567" }, { "id": "0110909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110909" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "317", "end_pos": "317" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q08334-1.49.49", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q08334-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q08334-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q08334-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q08334-1.84.84", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q08334-1.104.104", "start_pos": 104, "end_pos": 104, "uniprot_canonical_ac": "Q08334-1", "length": 325, "uniprot_id": "I10R2_HUMAN", "protein_name": "Interleukin-10 receptor subunit beta", "refseq_ac": "NP_000619", "refseq_name": "interleukin-10 receptor subunit beta isoform 1 precursor", "gene_name": "IL10RB", "gene_names_uniprotkb": "IL10RB; CRFB4; D21S58; D21S66", "gene_names_refseq": "CDW210B; CRF2-4; CRFB4; D21S58; D21S66; IBD25; IL-10R2; IL-10RB; IL10RB", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q08334", "url": "https://www.uniprot.org/uniprotkb/Q08334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q08334", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q08334", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1989178743", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1989178743", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1989178743", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1989178743", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "DHTLRVRAEFADEHSDWVNI", "down_seq": "FCPVDDTIIGPPGMQVEVLA", "snv": [ { "evidence": [ { "id": "Q08334", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q08334" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NIT->NIA).", "chr_id": "21", "chr_pos": "33276732", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "T104", "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": "rs1989178743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1989178743" }, { "id": "rs1989178743", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1989178743" } ], "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 (NIT->NII).", "chr_id": "21", "chr_pos": "33276733", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T104", "disease": [ { "disease_id": "DOID:0110909", "recommended_name": { "id": "DOID:0110909", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110909", "name": "inflammatory bowel disease 25", "description": "An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the IL10RB gene on chromosome 21q22." }, "synonyms": [ { "id": "DOID:0110909", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110909", "name": "IBD25", "description": "" }, { "id": "DOID:0110909", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110909", "name": "early onset autosomal recessive inflammatory bowel disease 25", "description": "" }, { "id": "MONDO:0012941", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012941", "name": "inflammatory bowel disease 25", "description": "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene." }, { "id": "MONDO:0012941", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012941", "name": "IBD25", "description": "" }, { "id": "MONDO:0012941", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012941", "name": "IL10RB inflammatory bowel disease", "description": "" }, { "id": "MONDO:0012941", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012941", "name": "inflammatory bowel disease 25, early onset, autosomal recessive", "description": "" }, { "id": "MONDO:0012941", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012941", "name": "inflammatory bowel disease caused by mutation in IL10RB", "description": "" }, { "id": "MONDO:0012941", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012941", "name": "inflammatory bowel disease type 25", "description": "" }, { "id": "MONDO:0012941", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012941", "name": "inflammatory bowel disease 25, autosomal recessive", "description": "" }, { "id": "MIM:612567", "resource": "MIM", "url": "https://www.omim.org/entry/612567", "name": "Inflammatory bowel disease 25, autosomal recessive", "description": "Inflammatory bowel disease 25, autosomal recessive" } ], "unlinked_id_list": [], "evidence": [ { "id": "612567", "database": "MIM", "url": "https://www.omim.org/entry/612567" }, { "id": "0110909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110909" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "317", "end_pos": "317" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q08334-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q08334-1.102.102", "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": "Q08334-1.130.130", "start_pos": 130, "end_pos": 130, "uniprot_canonical_ac": "Q08334-1", "length": 325, "uniprot_id": "I10R2_HUMAN", "protein_name": "Interleukin-10 receptor subunit beta", "refseq_ac": "NP_000619", "refseq_name": "interleukin-10 receptor subunit beta isoform 1 precursor", "gene_name": "IL10RB", "gene_names_uniprotkb": "IL10RB; CRFB4; D21S58; D21S66", "gene_names_refseq": "CDW210B; CRF2-4; CRFB4; D21S58; D21S66; IBD25; IL-10R2; IL-10RB; IL10RB", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q08334", "url": "https://www.uniprot.org/uniprotkb/Q08334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q08334", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q08334", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "DTIIGPPGMQVEVLADSLHM", "down_seq": "FLAPKIENEYETWTMKNVYN", "snv": [ { "evidence": [ { "id": "Q08334", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q08334" } ], "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": "21", "chr_pos": "33279808", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R130", "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": "102", "end_pos": "102" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "317", "end_pos": "317" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "Q08334-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q08334-1.149.149", "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": "Q08334-1.140.140", "start_pos": 140, "end_pos": 140, "uniprot_canonical_ac": "Q08334-1", "length": 325, "uniprot_id": "I10R2_HUMAN", "protein_name": "Interleukin-10 receptor subunit beta", "refseq_ac": "NP_000619", "refseq_name": "interleukin-10 receptor subunit beta isoform 1 precursor", "gene_name": "IL10RB", "gene_names_uniprotkb": "IL10RB; CRFB4; D21S58; D21S66", "gene_names_refseq": "CDW210B; CRF2-4; CRFB4; D21S58; D21S66; IBD25; IL-10R2; IL-10RB; IL10RB", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q08334", "url": "https://www.uniprot.org/uniprotkb/Q08334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs56373309", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs56373309", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs56373309", "url": "https://www.ensembl.org/id/rs56373309", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "Q08334", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q08334", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "VEVLADSLHMRFLAPKIENE", "down_seq": "ETWTMKNVYNSWTYNVQYWK", "snv": [ { "evidence": [ { "id": "rs56373309", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs56373309" }, { "id": "rs56373309", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs56373309" } ], "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 (NEY->NEC).", "chr_id": "21", "chr_pos": "33279839", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y140", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q08334", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q08334" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NEY->NES).", "chr_id": "21", "chr_pos": "33279839", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Y140", "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": "102", "end_pos": "102" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "317", "end_pos": "317" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q08334-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q08334-1.149.149", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q08334-1.152.152", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q08334-1.149.149", "start_pos": 149, "end_pos": 149, "uniprot_canonical_ac": "Q08334-1", "length": 325, "uniprot_id": "I10R2_HUMAN", "protein_name": "Interleukin-10 receptor subunit beta", "refseq_ac": "NP_000619", "refseq_name": "interleukin-10 receptor subunit beta isoform 1 precursor", "gene_name": "IL10RB", "gene_names_uniprotkb": "IL10RB; CRFB4; D21S58; D21S66", "gene_names_refseq": "CDW210B; CRF2-4; CRFB4; D21S58; D21S66; IBD25; IL-10R2; IL-10RB; IL10RB", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q08334", "url": "https://www.uniprot.org/uniprotkb/Q08334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1186719026", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1186719026", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1186719026", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1186719026#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1186719026", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1186719026", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "MRFLAPKIENEYETWTMKNV", "down_seq": "NSWTYNVQYWKNGTDEKFQI", "snv": [ { "evidence": [ { "id": "rs1186719026", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1186719026" }, { "id": "rs1186719026", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1186719026#frequency_tab" }, { "id": "rs1186719026", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1186719026" } ], "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": "21", "chr_pos": "33279866", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y149", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110909", "recommended_name": { "id": "DOID:0110909", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110909", "name": "inflammatory bowel disease 25", "description": "An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the IL10RB gene on chromosome 21q22." }, "synonyms": [ { "id": "DOID:0110909", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110909", "name": "IBD25", "description": "" }, { "id": "DOID:0110909", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110909", "name": "early onset autosomal recessive inflammatory bowel disease 25", "description": "" }, { "id": "MONDO:0012941", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012941", "name": "inflammatory bowel disease 25", "description": "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene." }, { "id": "MONDO:0012941", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012941", "name": "IBD25", "description": "" }, { "id": "MONDO:0012941", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012941", "name": "IL10RB inflammatory bowel disease", "description": "" }, { "id": "MONDO:0012941", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012941", "name": "inflammatory bowel disease 25, early onset, autosomal recessive", "description": "" }, { "id": "MONDO:0012941", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012941", "name": "inflammatory bowel disease caused by mutation in IL10RB", "description": "" }, { "id": "MONDO:0012941", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012941", "name": "inflammatory bowel disease type 25", "description": "" }, { "id": "MONDO:0012941", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012941", "name": "inflammatory bowel disease 25, autosomal recessive", "description": "" }, { "id": "MIM:612567", "resource": "MIM", "url": "https://www.omim.org/entry/612567", "name": "Inflammatory bowel disease 25, autosomal recessive", "description": "Inflammatory bowel disease 25, autosomal recessive" } ], "unlinked_id_list": [], "evidence": [ { "id": "612567", "database": "MIM", "url": "https://www.omim.org/entry/612567" }, { "id": "0110909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110909" } ] } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "317", "end_pos": "317" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q08334-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q08334-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q08334-1.152.152", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q08334-1.161.161", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q08334-1.152.152", "start_pos": 152, "end_pos": 152, "uniprot_canonical_ac": "Q08334-1", "length": 325, "uniprot_id": "I10R2_HUMAN", "protein_name": "Interleukin-10 receptor subunit beta", "refseq_ac": "NP_000619", "refseq_name": "interleukin-10 receptor subunit beta isoform 1 precursor", "gene_name": "IL10RB", "gene_names_uniprotkb": "IL10RB; CRFB4; D21S58; D21S66", "gene_names_refseq": "CDW210B; CRF2-4; CRFB4; D21S58; D21S66; IBD25; IL-10R2; IL-10RB; IL10RB", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q08334", "url": "https://www.uniprot.org/uniprotkb/Q08334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q08334", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q08334", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1989248527", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1989248527", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1989248527", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1989248527", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "LAPKIENEYETWTMKNVYNS", "down_seq": "TYNVQYWKNGTDEKFQITPQ", "snv": [ { "evidence": [ { "id": "Q08334", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q08334" }, { "id": "rs1989248527", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1989248527" }, { "id": "rs1989248527", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1989248527" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "4", "frequency": "0.1", "sequence_org": "W", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NSW->NSC).", "chr_id": "21", "chr_pos": "33279876", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "W152", "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": "102", "end_pos": "102" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "317", "end_pos": "317" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q08334-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q08334-1.149.149", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q08334-1.161.161", "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": "Q08334-1.192.192", "start_pos": 192, "end_pos": 192, "uniprot_canonical_ac": "Q08334-1", "length": 325, "uniprot_id": "I10R2_HUMAN", "protein_name": "Interleukin-10 receptor subunit beta", "refseq_ac": "NP_000619", "refseq_name": "interleukin-10 receptor subunit beta isoform 1 precursor", "gene_name": "IL10RB", "gene_names_uniprotkb": "IL10RB; CRFB4; D21S58; D21S66", "gene_names_refseq": "CDW210B; CRF2-4; CRFB4; D21S58; D21S66; IBD25; IL-10R2; IL-10RB; IL10RB", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q08334", "url": "https://www.uniprot.org/uniprotkb/Q08334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q08334", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q08334", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QYDFEVLRNLEPWTTYCVQV", "down_seq": "GFLPDRNKAGEWSEPVCEQT", "snv": [ { "evidence": [ { "id": "Q08334", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q08334" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "4", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "21", "chr_pos": "33283169", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R192", "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: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: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": "102", "end_pos": "102" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "317", "end_pos": "317" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q08334-1.201.201", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q08334-1.201.201", "start_pos": 201, "end_pos": 201, "uniprot_canonical_ac": "Q08334-1", "length": 325, "uniprot_id": "I10R2_HUMAN", "protein_name": "Interleukin-10 receptor subunit beta", "refseq_ac": "NP_000619", "refseq_name": "interleukin-10 receptor subunit beta isoform 1 precursor", "gene_name": "IL10RB", "gene_names_uniprotkb": "IL10RB; CRFB4; D21S58; D21S66", "gene_names_refseq": "CDW210B; CRF2-4; CRFB4; D21S58; D21S66; IBD25; IL-10R2; IL-10RB; IL10RB", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q08334", "url": "https://www.uniprot.org/uniprotkb/Q08334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q08334", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q08334", "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": "A", "start_aa": "A", "up_seq": "LEPWTTYCVQVRGFLPDRNK", "down_seq": "GEWSEPVCEQTTHDETVPSW", "snv": [ { "evidence": [ { "id": "Q08334", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q08334" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" } ], "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 (NKA->NKT).", "chr_id": "21", "chr_pos": "33283196", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A201", "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": "102", "end_pos": "102" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "317", "end_pos": "317" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q08334-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q08334-1.216.216", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q08334-1.216.216", "start_pos": 216, "end_pos": 216, "uniprot_canonical_ac": "Q08334-1", "length": 325, "uniprot_id": "I10R2_HUMAN", "protein_name": "Interleukin-10 receptor subunit beta", "refseq_ac": "NP_000619", "refseq_name": "interleukin-10 receptor subunit beta isoform 1 precursor", "gene_name": "IL10RB", "gene_names_uniprotkb": "IL10RB; CRFB4; D21S58; D21S66", "gene_names_refseq": "CDW210B; CRF2-4; CRFB4; D21S58; D21S66; IBD25; IL-10R2; IL-10RB; IL10RB", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q08334", "url": "https://www.uniprot.org/uniprotkb/Q08334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q08334", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q08334", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "PDRNKAGEWSEPVCEQTTHD", "down_seq": "TVPSWMVAVILMASVFMVCL", "snv": [ { "evidence": [ { "id": "Q08334", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q08334" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "21", "chr_pos": "33283241", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E216", "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: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": "102", "end_pos": "102" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "317", "end_pos": "317" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q08334-1.201.201", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q08334-1.311.311", "start_pos": 311, "end_pos": 311, "uniprot_canonical_ac": "Q08334-1", "length": 325, "uniprot_id": "I10R2_HUMAN", "protein_name": "Interleukin-10 receptor subunit beta", "refseq_ac": "NP_000619", "refseq_name": "interleukin-10 receptor subunit beta isoform 1 precursor", "gene_name": "IL10RB", "gene_names_uniprotkb": "IL10RB; CRFB4; D21S58; D21S66", "gene_names_refseq": "CDW210B; CRF2-4; CRFB4; D21S58; D21S66; IBD25; IL-10R2; IL-10RB; IL10RB", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q08334", "url": "https://www.uniprot.org/uniprotkb/Q08334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs544407415", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs544407415", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs544407415", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs544407415", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs544407415", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs544407415", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs544407415", "url": "https://www.ncbi.nlm.nih.gov/snp/rs544407415#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs544407415", "url": "http://gnomad.broadinstitute.org/awesome?query=rs544407415", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "VFDKLSVIAEDSESGKQNPG", "down_seq": "SCSLGTPPGQGPQS", "snv": [ { "evidence": [ { "id": "rs544407415", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs544407415" }, { "id": "rs544407415", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs544407415" }, { "id": "rs544407415", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs544407415" }, { "id": "rs544407415", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs544407415#frequency_tab" }, { "id": "rs544407415", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs544407415" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DSC->NSC).", "chr_id": "21", "chr_pos": "33296310", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "D311", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "317", "end_pos": "317" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q08334-1.296.296", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q08334-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q08334-1.317.317", "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": "Q08334-1.312.312", "start_pos": 312, "end_pos": 312, "uniprot_canonical_ac": "Q08334-1", "length": 325, "uniprot_id": "I10R2_HUMAN", "protein_name": "Interleukin-10 receptor subunit beta", "refseq_ac": "NP_000619", "refseq_name": "interleukin-10 receptor subunit beta isoform 1 precursor", "gene_name": "IL10RB", "gene_names_uniprotkb": "IL10RB; CRFB4; D21S58; D21S66", "gene_names_refseq": "CDW210B; CRF2-4; CRFB4; D21S58; D21S66; IBD25; IL-10R2; IL-10RB; IL10RB", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q08334", "url": "https://www.uniprot.org/uniprotkb/Q08334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1436407529", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1436407529", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1436407529", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1436407529#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1436407529", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1436407529", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "FDKLSVIAEDSESGKQNPGD", "down_seq": "CSLGTPPGQGPQS", "snv": [ { "evidence": [ { "id": "rs1436407529", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1436407529" }, { "id": "rs1436407529", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1436407529#frequency_tab" }, { "id": "rs1436407529", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1436407529" } ], "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 (SCS->NCS).", "chr_id": "21", "chr_pos": "33296314", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S312", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "317", "end_pos": "317" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q08334-1.296.296", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q08334-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q08334-1.317.317", "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": "Q08334-1.51.51", "start_pos": 51, "end_pos": 51, "uniprot_canonical_ac": "Q08334-1", "length": 325, "uniprot_id": "I10R2_HUMAN", "protein_name": "Interleukin-10 receptor subunit beta", "refseq_ac": "NP_000619", "refseq_name": "interleukin-10 receptor subunit beta isoform 1 precursor", "gene_name": "IL10RB", "gene_names_uniprotkb": "IL10RB; CRFB4; D21S58; D21S66", "gene_names_refseq": "CDW210B; CRF2-4; CRFB4; D21S58; D21S66; IBD25; IL-10R2; IL-10RB; IL10RB", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q08334", "url": "https://www.uniprot.org/uniprotkb/Q08334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs778456036", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778456036", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs778456036", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778456036", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs778456036", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778456036#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs778456036", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778456036", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SVNFKNILQWESPAFAKGNL", "down_seq": "FTAQYLSYRIFQDKCMNTTL", "snv": [ { "evidence": [ { "id": "rs778456036", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778456036" }, { "id": "rs778456036", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778456036" }, { "id": "rs778456036", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778456036#frequency_tab" }, { "id": "rs778456036", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778456036" } ], "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 (NLT->NLI).", "chr_id": "21", "chr_pos": "33268496", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T51", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "317", "end_pos": "317" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q08334-1.49.49", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q08334-1.68.68", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q08334-1.70.70", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q08334-1.70.70", "start_pos": 70, "end_pos": 70, "uniprot_canonical_ac": "Q08334-1", "length": 325, "uniprot_id": "I10R2_HUMAN", "protein_name": "Interleukin-10 receptor subunit beta", "refseq_ac": "NP_000619", "refseq_name": "interleukin-10 receptor subunit beta isoform 1 precursor", "gene_name": "IL10RB", "gene_names_uniprotkb": "IL10RB; CRFB4; D21S58; D21S66", "gene_names_refseq": "CDW210B; CRF2-4; CRFB4; D21S58; D21S66; IBD25; IL-10R2; IL-10RB; IL10RB", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q08334", "url": "https://www.uniprot.org/uniprotkb/Q08334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1178679614", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1178679614", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1178679614", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1178679614", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q08334", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q08334", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs776256199", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776256199", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs776256199", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776256199", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs776256199", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776256199", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LTFTAQYLSYRIFQDKCMNT", "down_seq": "LTECDFSSLSKYGDHTLRVR", "snv": [ { "evidence": [ { "id": "rs1178679614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1178679614" }, { "id": "rs1178679614", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1178679614" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NTT->NTA).", "chr_id": "21", "chr_pos": "33276630", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T70", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q08334", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q08334" }, { "id": "rs776256199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776256199" }, { "id": "rs776256199", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776256199" }, { "id": "rs776256199", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776256199" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NTT->NTI).", "chr_id": "21", "chr_pos": "33276631", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T70", "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", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "317", "end_pos": "317" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q08334-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q08334-1.68.68", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q08334-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q08334-1.84.84", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "Q08334-1.75.75", "start_pos": 75, "end_pos": 75, "uniprot_canonical_ac": "Q08334-1", "length": 325, "uniprot_id": "I10R2_HUMAN", "protein_name": "Interleukin-10 receptor subunit beta", "refseq_ac": "NP_000619", "refseq_name": "interleukin-10 receptor subunit beta isoform 1 precursor", "gene_name": "IL10RB", "gene_names_uniprotkb": "IL10RB; CRFB4; D21S58; D21S66", "gene_names_refseq": "CDW210B; CRF2-4; CRFB4; D21S58; D21S66; IBD25; IL-10R2; IL-10RB; IL10RB", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q08334", "url": "https://www.uniprot.org/uniprotkb/Q08334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q08334", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q08334", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "QYLSYRIFQDKCMNTTLTEC", "down_seq": "FSSLSKYGDHTLRVRAEFAD", "snv": [ { "evidence": [ { "id": "Q08334", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q08334" } ], "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 (DFS->NFS).", "chr_id": "21", "chr_pos": "33276645", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D75", "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": "102", "end_pos": "102" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "317", "end_pos": "317" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q08334-1.68.68", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q08334-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q08334-1.84.84", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q08334-1.84.84", "start_pos": 84, "end_pos": 84, "uniprot_canonical_ac": "Q08334-1", "length": 325, "uniprot_id": "I10R2_HUMAN", "protein_name": "Interleukin-10 receptor subunit beta", "refseq_ac": "NP_000619", "refseq_name": "interleukin-10 receptor subunit beta isoform 1 precursor", "gene_name": "IL10RB", "gene_names_uniprotkb": "IL10RB; CRFB4; D21S58; D21S66", "gene_names_refseq": "CDW210B; CRF2-4; CRFB4; D21S58; D21S66; IBD25; IL-10R2; IL-10RB; IL10RB", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q08334", "url": "https://www.uniprot.org/uniprotkb/Q08334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1989177574", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1989177574", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1989177574", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1989177574#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "DKCMNTTLTECDFSSLSKYG", "down_seq": "HTLRVRAEFADEHSDWVNIT", "snv": [ { "evidence": [ { "id": "rs1989177574", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1989177574" }, { "id": "rs1989177574", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1989177574#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DHT->NHT).", "chr_id": "21", "chr_pos": "33276672", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D84", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "317", "end_pos": "317" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q08334-1.68.68", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q08334-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q08334-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q08334-1.102.102", "categories": [ "glycosylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q08334-1.104.104", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q08334-1.296.296", "start_pos": 296, "end_pos": 296, "uniprot_canonical_ac": "Q08334-1", "length": 325, "uniprot_id": "I10R2_HUMAN", "protein_name": "Interleukin-10 receptor subunit beta", "refseq_ac": "NP_000619", "refseq_name": "interleukin-10 receptor subunit beta isoform 1 precursor", "gene_name": "IL10RB", "gene_names_uniprotkb": "IL10RB; CRFB4; D21S58; D21S66", "gene_names_refseq": "CDW210B; CRF2-4; CRFB4; D21S58; D21S66; IBD25; IL-10R2; IL-10RB; IL10RB", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q08334", "url": "https://www.uniprot.org/uniprotkb/Q08334" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deciphering the landscape of phosphorylated HLA-II ligands.", "journal": "iScience", "date": "2022-05-20", "authors": "Solleder Marthe, Racle Julien, Guillaume Philippe, Coukos George, Bassani-Sternberg Michal, Gfeller David", "evidence": [ { "database": "iPTMnet", "id": "Q08334", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q08334" } ], "reference": [ { "type": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ] } ], "crossref": [ { "id": "Q08334", "url": "https://www.iedb.org/epitope/Q08334", "database": "IEDB", "categories": [ "Other" ] }, { "id": "Q08334", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q08334", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NTLLFFSFPLSDENDVFDKL", "down_seq": "VIAEDSESGKQNPGDSCSLG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "IEDB", "id": "Q08334", "url": "https://www.iedb.org/epitope/Q08334" }, { "database": "iPTMnet", "id": "Q08334", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q08334" }, { "database": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ], "site_lbl": "Ser296" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "317", "end_pos": "317" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q08334-1.289.289", "categories": [ "glycosylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q08334-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q08334-1.312.312", "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": "Q08334-1.317.317", "start_pos": 317, "end_pos": 317, "uniprot_canonical_ac": "Q08334-1", "length": 325, "uniprot_id": "I10R2_HUMAN", "protein_name": "Interleukin-10 receptor subunit beta", "refseq_ac": "NP_000619", "refseq_name": "interleukin-10 receptor subunit beta isoform 1 precursor", "gene_name": "IL10RB", "gene_names_uniprotkb": "IL10RB; CRFB4; D21S58; D21S66", "gene_names_refseq": "CDW210B; CRF2-4; CRFB4; D21S58; D21S66; IBD25; IL-10R2; IL-10RB; IL10RB", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q08334", "url": "https://www.uniprot.org/uniprotkb/Q08334" } ], "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": "Q08334", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q08334" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] } ], "crossref": [ { "id": "Q08334", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q08334", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "VIAEDSESGKQNPGDSCSLG", "down_seq": "PPGQGPQS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q08334", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q08334" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Thr317" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "68", "end_pos": "68" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "296", "end_pos": "296" }, { "start_pos": "317", "end_pos": "317" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q08334-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q08334-1.312.312", "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": "O95136-1.19.19", "start_pos": 19, "end_pos": 19, "uniprot_canonical_ac": "O95136-1", "length": 353, "uniprot_id": "S1PR2_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 2", "refseq_ac": "NP_004221", "refseq_name": "sphingosine 1-phosphate receptor 2", "gene_name": "S1PR2", "gene_names_uniprotkb": "S1PR2; EDG5", "gene_names_refseq": "AGR16; DFNB68; EDG-5; EDG5; Gpcr13; H218; LPB2; S1P2; S1PR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] } ], "crossref": [ { "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529", "database": "DOI", "categories": [ "Other" ] }, { "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888", "database": "Data Submission", "categories": [ "Other" ] }, { "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "MGSLYSEYLNPNKVQEHY", "down_seq": "YTKETLETQETTSRQVASAF", "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": "VQEHYNYTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn19", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn19", "evidence": [ { "id": "O95136", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O95136#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "19", "end_pos": "19" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "329", "end_pos": "329" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "262", "end_pos": "262" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "O95136-1.21.21", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O95136-1.147.147", "start_pos": 147, "end_pos": 147, "uniprot_canonical_ac": "O95136-1", "length": 353, "uniprot_id": "S1PR2_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 2", "refseq_ac": "NP_004221", "refseq_name": "sphingosine 1-phosphate receptor 2", "gene_name": "S1PR2", "gene_names_uniprotkb": "S1PR2; EDG5", "gene_names_refseq": "AGR16; DFNB68; EDG-5; EDG5; Gpcr13; H218; LPB2; S1P2; S1PR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Loss of signalling via Galpha13 in germinal centre B-cell-derived lymphoma.", "journal": "Nature", "date": "2014", "authors": "Muppidi JR, Schmitz R, Green JA, Xiao W, Larsen AB, Braun SE, An J, Xu Y, Rosenwald A, Ott G, Gascoyne RD, Rimsza LM, Campo E, Jaffe ES, Delabie J, Smeland EB, Braziel RM, Tubbs RR, Cook JR, Weisenburger DD, Chan WC, Vaidehi N, Staudt LM, Cyster JG", "evidence": [ { "database": "UniProtKB", "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136" } ], "reference": [ { "type": "PubMed", "id": "25274307", "url": "https://glygen.org/publication/PubMed/25274307" } ] } ], "crossref": [ { "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25274307", "url": "https://glygen.org/publication/PubMed/25274307", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "AIERHVAIAKVKLYGSDKSC", "down_seq": "MLLLIGASWLISLVLGGLPI", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "No effect on protein expression at the cell surface. Decreases S1PR2-mediated inhibition of AKT activation and B cell migration. Loss of S1PR2-dependent inhibition of GCB cell growth.", "evidence": [ { "database": "UniProtKB", "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136" }, { "database": "PubMed", "id": "25274307", "url": "https://glygen.org/publication/PubMed/25274307" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "19", "end_pos": "19" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "329", "end_pos": "329" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "262", "end_pos": "262" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "O95136-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O95136-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O95136-1.156.156", "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": "O95136-1.156.156", "start_pos": 156, "end_pos": 156, "uniprot_canonical_ac": "O95136-1", "length": 353, "uniprot_id": "S1PR2_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 2", "refseq_ac": "NP_004221", "refseq_name": "sphingosine 1-phosphate receptor 2", "gene_name": "S1PR2", "gene_names_uniprotkb": "S1PR2; EDG5", "gene_names_refseq": "AGR16; DFNB68; EDG-5; EDG5; Gpcr13; H218; LPB2; S1P2; S1PR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Loss of signalling via Galpha13 in germinal centre B-cell-derived lymphoma.", "journal": "Nature", "date": "2014", "authors": "Muppidi JR, Schmitz R, Green JA, Xiao W, Larsen AB, Braun SE, An J, Xu Y, Rosenwald A, Ott G, Gascoyne RD, Rimsza LM, Campo E, Jaffe ES, Delabie J, Smeland EB, Braziel RM, Tubbs RR, Cook JR, Weisenburger DD, Chan WC, Vaidehi N, Staudt LM, Cyster JG", "evidence": [ { "database": "UniProtKB", "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136" } ], "reference": [ { "type": "PubMed", "id": "25274307", "url": "https://glygen.org/publication/PubMed/25274307" } ] } ], "crossref": [ { "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25274307", "url": "https://glygen.org/publication/PubMed/25274307", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "KVKLYGSDKSCRMLLLIGAS", "down_seq": "LISLVLGGLPILGWNCLGHL", "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "G", "comment": "Loss of protein expression.", "evidence": [ { "database": "UniProtKB", "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136" }, { "database": "PubMed", "id": "25274307", "url": "https://glygen.org/publication/PubMed/25274307" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "19", "end_pos": "19" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "329", "end_pos": "329" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "262", "end_pos": "262" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "O95136-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "O95136-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O95136-1.147.147", "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": "O95136-1.194.194", "start_pos": 194, "end_pos": 194, "uniprot_canonical_ac": "O95136-1", "length": 353, "uniprot_id": "S1PR2_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 2", "refseq_ac": "NP_004221", "refseq_name": "sphingosine 1-phosphate receptor 2", "gene_name": "S1PR2", "gene_names_uniprotkb": "S1PR2; EDG5", "gene_names_refseq": "AGR16; DFNB68; EDG-5; EDG5; Gpcr13; H218; LPB2; S1P2; S1PR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Loss of signalling via Galpha13 in germinal centre B-cell-derived lymphoma.", "journal": "Nature", "date": "2014", "authors": "Muppidi JR, Schmitz R, Green JA, Xiao W, Larsen AB, Braun SE, An J, Xu Y, Rosenwald A, Ott G, Gascoyne RD, Rimsza LM, Campo E, Jaffe ES, Delabie J, Smeland EB, Braziel RM, Tubbs RR, Cook JR, Weisenburger DD, Chan WC, Vaidehi N, Staudt LM, Cyster JG", "evidence": [ { "database": "UniProtKB", "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136" } ], "reference": [ { "type": "PubMed", "id": "25274307", "url": "https://glygen.org/publication/PubMed/25274307" } ] } ], "crossref": [ { "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25274307", "url": "https://glygen.org/publication/PubMed/25274307", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "GHLEACSTVLPLYAKHYVLC", "down_seq": "VTIFSIILLAIVALYVRIYC", "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Loss of protein expression.", "evidence": [ { "database": "UniProtKB", "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136" }, { "database": "PubMed", "id": "25274307", "url": "https://glygen.org/publication/PubMed/25274307" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "19", "end_pos": "19" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "329", "end_pos": "329" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "262", "end_pos": "262" } ] } ], "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": "O95136-1.245.245", "start_pos": 245, "end_pos": 245, "uniprot_canonical_ac": "O95136-1", "length": 353, "uniprot_id": "S1PR2_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 2", "refseq_ac": "NP_004221", "refseq_name": "sphingosine 1-phosphate receptor 2", "gene_name": "S1PR2", "gene_names_uniprotkb": "S1PR2; EDG5", "gene_names_refseq": "AGR16; DFNB68; EDG-5; EDG5; Gpcr13; H218; LPB2; S1P2; S1PR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Loss of signalling via Galpha13 in germinal centre B-cell-derived lymphoma.", "journal": "Nature", "date": "2014", "authors": "Muppidi JR, Schmitz R, Green JA, Xiao W, Larsen AB, Braun SE, An J, Xu Y, Rosenwald A, Ott G, Gascoyne RD, Rimsza LM, Campo E, Jaffe ES, Delabie J, Smeland EB, Braziel RM, Tubbs RR, Cook JR, Weisenburger DD, Chan WC, Vaidehi N, Staudt LM, Cyster JG", "evidence": [ { "database": "UniProtKB", "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136" } ], "reference": [ { "type": "PubMed", "id": "25274307", "url": "https://glygen.org/publication/PubMed/25274307" } ] } ], "crossref": [ { "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25274307", "url": "https://glygen.org/publication/PubMed/25274307", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "APQTLALLKTVTIVLGVFIV", "down_seq": "WLPAFSILLLDYACPVHSCP", "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Markedly decreases protein expression.", "evidence": [ { "database": "UniProtKB", "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136" }, { "database": "PubMed", "id": "25274307", "url": "https://glygen.org/publication/PubMed/25274307" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "19", "end_pos": "19" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "329", "end_pos": "329" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "262", "end_pos": "262" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O95136-1.225.225", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O95136-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O95136-1.256.256", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O95136-1.262.262", "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": "O95136-1.248.248", "start_pos": 248, "end_pos": 248, "uniprot_canonical_ac": "O95136-1", "length": 353, "uniprot_id": "S1PR2_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 2", "refseq_ac": "NP_004221", "refseq_name": "sphingosine 1-phosphate receptor 2", "gene_name": "S1PR2", "gene_names_uniprotkb": "S1PR2; EDG5", "gene_names_refseq": "AGR16; DFNB68; EDG-5; EDG5; Gpcr13; H218; LPB2; S1P2; S1PR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Loss of signalling via Galpha13 in germinal centre B-cell-derived lymphoma.", "journal": "Nature", "date": "2014", "authors": "Muppidi JR, Schmitz R, Green JA, Xiao W, Larsen AB, Braun SE, An J, Xu Y, Rosenwald A, Ott G, Gascoyne RD, Rimsza LM, Campo E, Jaffe ES, Delabie J, Smeland EB, Braziel RM, Tubbs RR, Cook JR, Weisenburger DD, Chan WC, Vaidehi N, Staudt LM, Cyster JG", "evidence": [ { "database": "UniProtKB", "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136" } ], "reference": [ { "type": "PubMed", "id": "25274307", "url": "https://glygen.org/publication/PubMed/25274307" } ] } ], "crossref": [ { "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25274307", "url": "https://glygen.org/publication/PubMed/25274307", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "TLALLKTVTIVLGVFIVCWL", "down_seq": "AFSILLLDYACPVHSCPILY", "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Loss of protein expression.", "evidence": [ { "database": "UniProtKB", "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136" }, { "database": "PubMed", "id": "25274307", "url": "https://glygen.org/publication/PubMed/25274307" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "19", "end_pos": "19" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "329", "end_pos": "329" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "262", "end_pos": "262" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "O95136-1.245.245", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O95136-1.256.256", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O95136-1.262.262", "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": "O95136-1.256.256", "start_pos": 256, "end_pos": 256, "uniprot_canonical_ac": "O95136-1", "length": 353, "uniprot_id": "S1PR2_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 2", "refseq_ac": "NP_004221", "refseq_name": "sphingosine 1-phosphate receptor 2", "gene_name": "S1PR2", "gene_names_uniprotkb": "S1PR2; EDG5", "gene_names_refseq": "AGR16; DFNB68; EDG-5; EDG5; Gpcr13; H218; LPB2; S1P2; S1PR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Loss of signalling via Galpha13 in germinal centre B-cell-derived lymphoma.", "journal": "Nature", "date": "2014", "authors": "Muppidi JR, Schmitz R, Green JA, Xiao W, Larsen AB, Braun SE, An J, Xu Y, Rosenwald A, Ott G, Gascoyne RD, Rimsza LM, Campo E, Jaffe ES, Delabie J, Smeland EB, Braziel RM, Tubbs RR, Cook JR, Weisenburger DD, Chan WC, Vaidehi N, Staudt LM, Cyster JG", "evidence": [ { "database": "UniProtKB", "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136" } ], "reference": [ { "type": "PubMed", "id": "25274307", "url": "https://glygen.org/publication/PubMed/25274307" } ] } ], "crossref": [ { "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25274307", "url": "https://glygen.org/publication/PubMed/25274307", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "TIVLGVFIVCWLPAFSILLL", "down_seq": "YACPVHSCPILYKAHYFFAV", "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Loss of protein expression.", "evidence": [ { "database": "UniProtKB", "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136" }, { "database": "PubMed", "id": "25274307", "url": "https://glygen.org/publication/PubMed/25274307" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "19", "end_pos": "19" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "329", "end_pos": "329" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "262", "end_pos": "262" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "O95136-1.245.245", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O95136-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O95136-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O95136-1.272.272", "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": "O95136-1.272.272", "start_pos": 272, "end_pos": 272, "uniprot_canonical_ac": "O95136-1", "length": 353, "uniprot_id": "S1PR2_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 2", "refseq_ac": "NP_004221", "refseq_name": "sphingosine 1-phosphate receptor 2", "gene_name": "S1PR2", "gene_names_uniprotkb": "S1PR2; EDG5", "gene_names_refseq": "AGR16; DFNB68; EDG-5; EDG5; Gpcr13; H218; LPB2; S1P2; S1PR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Loss of signalling via Galpha13 in germinal centre B-cell-derived lymphoma.", "journal": "Nature", "date": "2014", "authors": "Muppidi JR, Schmitz R, Green JA, Xiao W, Larsen AB, Braun SE, An J, Xu Y, Rosenwald A, Ott G, Gascoyne RD, Rimsza LM, Campo E, Jaffe ES, Delabie J, Smeland EB, Braziel RM, Tubbs RR, Cook JR, Weisenburger DD, Chan WC, Vaidehi N, Staudt LM, Cyster JG", "evidence": [ { "database": "UniProtKB", "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136" } ], "reference": [ { "type": "PubMed", "id": "25274307", "url": "https://glygen.org/publication/PubMed/25274307" } ] } ], "crossref": [ { "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25274307", "url": "https://glygen.org/publication/PubMed/25274307", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "ILLLDYACPVHSCPILYKAH", "down_seq": "FFAVSTLNSLLNPVIYTWRS", "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Decreases protein expression. No effect on S1P-mediated inhibition of AKT signaling, GCB cell growth and migration.", "evidence": [ { "database": "UniProtKB", "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136" }, { "database": "PubMed", "id": "25274307", "url": "https://glygen.org/publication/PubMed/25274307" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "19", "end_pos": "19" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "329", "end_pos": "329" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "262", "end_pos": "262" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "O95136-1.256.256", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O95136-1.262.262", "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": "O95136-1.329.329", "start_pos": 329, "end_pos": 329, "uniprot_canonical_ac": "O95136-1", "length": 353, "uniprot_id": "S1PR2_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 2", "refseq_ac": "NP_004221", "refseq_name": "sphingosine 1-phosphate receptor 2", "gene_name": "S1PR2", "gene_names_uniprotkb": "S1PR2; EDG5", "gene_names_refseq": "AGR16; DFNB68; EDG-5; EDG5; Gpcr13; H218; LPB2; S1P2; S1PR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Loss of signalling via Galpha13 in germinal centre B-cell-derived lymphoma.", "journal": "Nature", "date": "2014", "authors": "Muppidi JR, Schmitz R, Green JA, Xiao W, Larsen AB, Braun SE, An J, Xu Y, Rosenwald A, Ott G, Gascoyne RD, Rimsza LM, Campo E, Jaffe ES, Delabie J, Smeland EB, Braziel RM, Tubbs RR, Cook JR, Weisenburger DD, Chan WC, Vaidehi N, Staudt LM, Cyster JG", "evidence": [ { "database": "UniProtKB", "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136" } ], "reference": [ { "type": "PubMed", "id": "25274307", "url": "https://glygen.org/publication/PubMed/25274307" } ] } ], "crossref": [ { "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25274307", "url": "https://glygen.org/publication/PubMed/25274307", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GVGVQGRRRGGTPGHHLLPL", "down_seq": "SSSSLERGMHMPTSPTFLEG", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "No effect on protein expression or S1PR2-mediated inhibition of AKT activation and B cell migration.", "evidence": [ { "database": "UniProtKB", "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136" }, { "database": "PubMed", "id": "25274307", "url": "https://glygen.org/publication/PubMed/25274307" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "19", "end_pos": "19" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "329", "end_pos": "329" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "262", "end_pos": "262" } ] } ], "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": "O95136-1.140.140", "start_pos": 140, "end_pos": 140, "uniprot_canonical_ac": "O95136-1", "length": 353, "uniprot_id": "S1PR2_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 2", "refseq_ac": "NP_004221", "refseq_name": "sphingosine 1-phosphate receptor 2", "gene_name": "S1PR2", "gene_names_uniprotkb": "S1PR2; EDG5", "gene_names_refseq": "AGR16; DFNB68; EDG-5; EDG5; Gpcr13; H218; LPB2; S1P2; S1PR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O95136", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95136", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "VFSLLAIAIERHVAIAKVKL", "down_seq": "GSDKSCRMLLLIGASWLISL", "snv": [ { "evidence": [ { "id": "O95136", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95136" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (YGS->NGS).", "chr_id": "19", "chr_pos": "10224488", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Y140", "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": "19", "end_pos": "19" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "329", "end_pos": "329" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "262", "end_pos": "262" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "O95136-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O95136-1.147.147", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O95136-1.156.156", "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": "O95136-1.143.143", "start_pos": 143, "end_pos": 143, "uniprot_canonical_ac": "O95136-1", "length": 353, "uniprot_id": "S1PR2_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 2", "refseq_ac": "NP_004221", "refseq_name": "sphingosine 1-phosphate receptor 2", "gene_name": "S1PR2", "gene_names_uniprotkb": "S1PR2; EDG5", "gene_names_refseq": "AGR16; DFNB68; EDG-5; EDG5; Gpcr13; H218; LPB2; S1P2; S1PR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs760232470", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760232470", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs760232470", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760232470", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs760232470", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760232470#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs760232470", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760232470", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LLAIAIERHVAIAKVKLYGS", "down_seq": "KSCRMLLLIGASWLISLVLG", "snv": [ { "evidence": [ { "id": "rs760232470", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760232470" }, { "id": "rs760232470", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760232470" }, { "id": "rs760232470", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760232470#frequency_tab" }, { "id": "rs760232470", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760232470" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DKS->NKS).", "chr_id": "19", "chr_pos": "10224479", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D143", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "19", "end_pos": "19" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "329", "end_pos": "329" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "262", "end_pos": "262" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "O95136-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O95136-1.147.147", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O95136-1.156.156", "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": "O95136-1.215.215", "start_pos": 215, "end_pos": 215, "uniprot_canonical_ac": "O95136-1", "length": 353, "uniprot_id": "S1PR2_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 2", "refseq_ac": "NP_004221", "refseq_name": "sphingosine 1-phosphate receptor 2", "gene_name": "S1PR2", "gene_names_uniprotkb": "S1PR2; EDG5", "gene_names_refseq": "AGR16; DFNB68; EDG-5; EDG5; Gpcr13; H218; LPB2; S1P2; S1PR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O95136", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95136", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "VTIFSIILLAIVALYVRIYC", "down_seq": "VRSSHADMAAPQTLALLKTV", "snv": [ { "evidence": [ { "id": "O95136", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95136" } ], "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 (3).", "chr_id": "19", "chr_pos": "10224263", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V215", "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": "19", "end_pos": "19" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "329", "end_pos": "329" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "262", "end_pos": "262" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "O95136-1.225.225", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O95136-1.21.21", "start_pos": 21, "end_pos": 21, "uniprot_canonical_ac": "O95136-1", "length": 353, "uniprot_id": "S1PR2_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 2", "refseq_ac": "NP_004221", "refseq_name": "sphingosine 1-phosphate receptor 2", "gene_name": "S1PR2", "gene_names_uniprotkb": "S1PR2; EDG5", "gene_names_refseq": "AGR16; DFNB68; EDG-5; EDG5; Gpcr13; H218; LPB2; S1P2; S1PR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1335594903", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1335594903", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1335594903", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1335594903#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1335594903", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1335594903", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "MGSLYSEYLNPNKVQEHYNY", "down_seq": "KETLETQETTSRQVASAFIV", "snv": [ { "evidence": [ { "id": "rs1335594903", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1335594903" }, { "id": "rs1335594903", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1335594903#frequency_tab" }, { "id": "rs1335594903", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1335594903" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NYT->NYA).", "chr_id": "19", "chr_pos": "10224845", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T21", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "19", "end_pos": "19" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "329", "end_pos": "329" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "262", "end_pos": "262" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "O95136-1.19.19", "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": "O95136-1.225.225", "start_pos": 225, "end_pos": 225, "uniprot_canonical_ac": "O95136-1", "length": 353, "uniprot_id": "S1PR2_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 2", "refseq_ac": "NP_004221", "refseq_name": "sphingosine 1-phosphate receptor 2", "gene_name": "S1PR2", "gene_names_uniprotkb": "S1PR2; EDG5", "gene_names_refseq": "AGR16; DFNB68; EDG-5; EDG5; Gpcr13; H218; LPB2; S1P2; S1PR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O95136", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95136", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "IVALYVRIYCVVRSSHADMA", "down_seq": "PQTLALLKTVTIVLGVFIVC", "snv": [ { "evidence": [ { "id": "O95136", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95136" } ], "glycoeffect": [], "subjects_tested": "2670", "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": "10224233", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A225", "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": "19", "end_pos": "19" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "329", "end_pos": "329" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "262", "end_pos": "262" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "O95136-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O95136-1.245.245", "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": "O95136-1.262.262", "start_pos": 262, "end_pos": 262, "uniprot_canonical_ac": "O95136-1", "length": 353, "uniprot_id": "S1PR2_HUMAN", "protein_name": "Sphingosine 1-phosphate receptor 2", "refseq_ac": "NP_004221", "refseq_name": "sphingosine 1-phosphate receptor 2", "gene_name": "S1PR2", "gene_names_uniprotkb": "S1PR2; EDG5", "gene_names_refseq": "AGR16; DFNB68; EDG-5; EDG5; Gpcr13; H218; LPB2; S1P2; S1PR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95136", "url": "https://www.uniprot.org/uniprotkb/O95136" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O95136", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95136", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "FIVCWLPAFSILLLDYACPV", "down_seq": "SCPILYKAHYFFAVSTLNSL", "snv": [ { "evidence": [ { "id": "O95136", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95136" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "H", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "19", "chr_pos": "10224121", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "H262", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "19", "end_pos": "19" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "147", "end_pos": "147" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "329", "end_pos": "329" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "262", "end_pos": "262" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "O95136-1.245.245", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O95136-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O95136-1.256.256", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O95136-1.272.272", "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": "Q0VDF9-1.59.59", "start_pos": 59, "end_pos": 59, "uniprot_canonical_ac": "Q0VDF9-1", "length": 509, "uniprot_id": "HSP7E_HUMAN", "protein_name": "Heat shock 70 kDa protein 14", "refseq_ac": "NP_057383", "refseq_name": "heat shock 70 kDa protein 14", "gene_name": "HSPA14", "gene_names_uniprotkb": "HSPA14; HSP60; HSP70L1", "gene_names_refseq": "HSP70-4; HSP70L1; HSPA14", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0VDF9", "url": "https://www.uniprot.org/uniprotkb/Q0VDF9" } ], "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": "VAYSENEEIVGLAAKQSRIR", "down_seq": "ISNTVMKVKQILGRSSSDPQ", "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": "NISNTVMK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn59", "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": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "481", "end_pos": "481" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "upstream", "id": "Q0VDF9-1.75.75", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q0VDF9-1.76.76", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q0VDF9-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q0VDF9-1", "length": 509, "uniprot_id": "HSP7E_HUMAN", "protein_name": "Heat shock 70 kDa protein 14", "refseq_ac": "NP_057383", "refseq_name": "heat shock 70 kDa protein 14", "gene_name": "HSPA14", "gene_names_uniprotkb": "HSPA14; HSP60; HSP70L1", "gene_names_refseq": "HSP70-4; HSP70L1; HSPA14", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0VDF9", "url": "https://www.uniprot.org/uniprotkb/Q0VDF9" } ], "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": "Q0VDF9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q0VDF9" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "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": "Q0VDF9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q0VDF9" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q0VDF9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q0VDF9" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q0VDF9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q0VDF9" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q0VDF9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q0VDF9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447", "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": "Q0VDF9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q0VDF9" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "481", "end_pos": "481" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "87", "end_pos": "87" } ] } ], "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": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q0VDF9-1.167.167", "start_pos": 167, "end_pos": 167, "uniprot_canonical_ac": "Q0VDF9-1", "length": 509, "uniprot_id": "HSP7E_HUMAN", "protein_name": "Heat shock 70 kDa protein 14", "refseq_ac": "NP_057383", "refseq_name": "heat shock 70 kDa protein 14", "gene_name": "HSPA14", "gene_names_uniprotkb": "HSPA14; HSP60; HSP70L1", "gene_names_refseq": "HSP70-4; HSP70L1; HSPA14", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0VDF9", "url": "https://www.uniprot.org/uniprotkb/Q0VDF9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1834106586", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1834106586", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1834106586", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1834106586#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "FGEKQKNALGEAARAAGFNV", "down_seq": "RLIHEPSAALLAYGIGQDSP", "snv": [ { "evidence": [ { "id": "rs1834106586", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1834106586" }, { "id": "rs1834106586", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1834106586#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVL->NVS).", "chr_id": "10", "chr_pos": "14851251", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L167", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "481", "end_pos": "481" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q0VDF9-1.194.194", "start_pos": 194, "end_pos": 194, "uniprot_canonical_ac": "Q0VDF9-1", "length": 509, "uniprot_id": "HSP7E_HUMAN", "protein_name": "Heat shock 70 kDa protein 14", "refseq_ac": "NP_057383", "refseq_name": "heat shock 70 kDa protein 14", "gene_name": "HSPA14", "gene_names_uniprotkb": "HSPA14; HSP60; HSP70L1", "gene_names_refseq": "HSP70-4; HSP70L1; HSPA14", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0VDF9", "url": "https://www.uniprot.org/uniprotkb/Q0VDF9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2131641432", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2131641432", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2131641432", "url": "https://www.ensembl.org/id/rs2131641432", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "SAALLAYGIGQDSPTGKSNI", "down_seq": "VFKLGGTSLSLSVMEVNSGI", "snv": [ { "evidence": [ { "id": "rs2131641432", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2131641432" }, { "id": "rs2131641432", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2131641432" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NIL->NIS).", "chr_id": "10", "chr_pos": "14852378", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L194", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "481", "end_pos": "481" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q0VDF9-1.227.227", "start_pos": 227, "end_pos": 227, "uniprot_canonical_ac": "Q0VDF9-1", "length": 509, "uniprot_id": "HSP7E_HUMAN", "protein_name": "Heat shock 70 kDa protein 14", "refseq_ac": "NP_057383", "refseq_name": "heat shock 70 kDa protein 14", "gene_name": "HSPA14", "gene_names_uniprotkb": "HSPA14; HSP60; HSP70L1", "gene_names_refseq": "HSP70-4; HSP70L1; HSPA14", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0VDF9", "url": "https://www.uniprot.org/uniprotkb/Q0VDF9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q0VDF9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q0VDF9", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1373419445", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1373419445", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1373419445", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1373419445#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1373419445", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1373419445", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "VMEVNSGIYRVLSTNTDDNI", "down_seq": "GAHFTETLAQYLASEFQRSF", "snv": [ { "evidence": [ { "id": "Q0VDF9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q0VDF9" }, { "id": "rs1373419445", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1373419445" }, { "id": "rs1373419445", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1373419445#frequency_tab" }, { "id": "rs1373419445", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1373419445" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NIG->NIS).", "chr_id": "10", "chr_pos": "14852476", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G227", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "481", "end_pos": "481" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q0VDF9-1.265.265", "start_pos": 265, "end_pos": 265, "uniprot_canonical_ac": "Q0VDF9-1", "length": 509, "uniprot_id": "HSP7E_HUMAN", "protein_name": "Heat shock 70 kDa protein 14", "refseq_ac": "NP_057383", "refseq_name": "heat shock 70 kDa protein 14", "gene_name": "HSPA14", "gene_names_uniprotkb": "HSPA14; HSP60; HSP70L1", "gene_names_refseq": "HSP70-4; HSP70L1; HSPA14", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0VDF9", "url": "https://www.uniprot.org/uniprotkb/Q0VDF9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q0VDF9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q0VDF9", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1264375330", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1264375330", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1264375330", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1264375330#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1264375330", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1264375330", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "RSFKHDVRGNARAMMKLTNS", "down_seq": "EVAKHSLSTLGSANCFLDSL", "snv": [ { "evidence": [ { "id": "Q0VDF9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q0VDF9" }, { "id": "rs1264375330", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1264375330" }, { "id": "rs1264375330", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1264375330#frequency_tab" }, { "id": "rs1264375330", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1264375330" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NSA->NST).", "chr_id": "10", "chr_pos": "14854183", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A265", "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": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "481", "end_pos": "481" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q0VDF9-1.30.30", "start_pos": 30, "end_pos": 30, "uniprot_canonical_ac": "Q0VDF9-1", "length": 509, "uniprot_id": "HSP7E_HUMAN", "protein_name": "Heat shock 70 kDa protein 14", "refseq_ac": "NP_057383", "refseq_name": "heat shock 70 kDa protein 14", "gene_name": "HSPA14", "gene_names_uniprotkb": "HSPA14; HSP60; HSP70L1", "gene_names_refseq": "HSP70-4; HSP70L1; HSPA14", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0VDF9", "url": "https://www.uniprot.org/uniprotkb/Q0VDF9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2491396338", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2491396338", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "CTSACVAVYKDGRAGVVAND", "down_seq": "GDRVTPAVVAYSENEEIVGL", "snv": [ { "evidence": [ { "id": "rs2491396338", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2491396338" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDA->NDT).", "chr_id": "10", "chr_pos": "14839935", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A30", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "481", "end_pos": "481" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q0VDF9-1.358.358", "start_pos": 358, "end_pos": 358, "uniprot_canonical_ac": "Q0VDF9-1", "length": 509, "uniprot_id": "HSP7E_HUMAN", "protein_name": "Heat shock 70 kDa protein 14", "refseq_ac": "NP_057383", "refseq_name": "heat shock 70 kDa protein 14", "gene_name": "HSPA14", "gene_names_uniprotkb": "HSPA14; HSP60; HSP70L1", "gene_names_refseq": "HSP70-4; HSP70L1; HSPA14", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0VDF9", "url": "https://www.uniprot.org/uniprotkb/Q0VDF9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q0VDF9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q0VDF9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "SSRIPKLQQLIKDLFPAVEL", "down_seq": "NSIPPDEVIPIGAAIEAGIL", "snv": [ { "evidence": [ { "id": "Q0VDF9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q0VDF9" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "12", "frequency": "0.3", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: patient count (12/4484).", "chr_id": "10", "chr_pos": "14867161", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L358", "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": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "481", "end_pos": "481" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q0VDF9-1.452.452", "start_pos": 452, "end_pos": 452, "uniprot_canonical_ac": "Q0VDF9-1", "length": 509, "uniprot_id": "HSP7E_HUMAN", "protein_name": "Heat shock 70 kDa protein 14", "refseq_ac": "NP_057383", "refseq_name": "heat shock 70 kDa protein 14", "gene_name": "HSPA14", "gene_names_uniprotkb": "HSPA14; HSP60; HSP70L1", "gene_names_refseq": "HSP70-4; HSP70L1; HSPA14", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0VDF9", "url": "https://www.uniprot.org/uniprotkb/Q0VDF9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs985901985", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs985901985", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs985901985", "url": "https://www.ensembl.org/id/rs985901985", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "APGSISSVCLELYESDGKNS", "down_seq": "KEETKFAQVVLQDLDKKENG", "snv": [ { "evidence": [ { "id": "rs985901985", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs985901985" }, { "id": "rs985901985", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs985901985" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSA->NST).", "chr_id": "10", "chr_pos": "14867883", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A452", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "481", "end_pos": "481" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q0VDF9-1.485.485", "start_pos": 485, "end_pos": 485, "uniprot_canonical_ac": "Q0VDF9-1", "length": 509, "uniprot_id": "HSP7E_HUMAN", "protein_name": "Heat shock 70 kDa protein 14", "refseq_ac": "NP_057383", "refseq_name": "heat shock 70 kDa protein 14", "gene_name": "HSPA14", "gene_names_uniprotkb": "HSPA14; HSP60; HSP70L1", "gene_names_refseq": "HSP70-4; HSP70L1; HSPA14", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0VDF9", "url": "https://www.uniprot.org/uniprotkb/Q0VDF9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1422915338", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1422915338", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1422915338", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1422915338", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "DLDKKENGLRDILAVLTMKR", "down_seq": "GSLHVTCTDQETGKCEAISI", "snv": [ { "evidence": [ { "id": "rs1422915338", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1422915338" }, { "id": "rs1422915338", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1422915338" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DGS->NGS).", "chr_id": "10", "chr_pos": "14871529", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D485", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "481", "end_pos": "481" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q0VDF9-1.481.481", "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": "Q0VDF9-1.85.85", "start_pos": 85, "end_pos": 85, "uniprot_canonical_ac": "Q0VDF9-1", "length": 509, "uniprot_id": "HSP7E_HUMAN", "protein_name": "Heat shock 70 kDa protein 14", "refseq_ac": "NP_057383", "refseq_name": "heat shock 70 kDa protein 14", "gene_name": "HSPA14", "gene_names_uniprotkb": "HSPA14; HSP60; HSP70L1", "gene_names_refseq": "HSP70-4; HSP70L1; HSPA14", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0VDF9", "url": "https://www.uniprot.org/uniprotkb/Q0VDF9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q0VDF9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q0VDF9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "MKVKQILGRSSSDPQAQKYI", "down_seq": "ESKCLVIEKNGKLRYEIDTG", "snv": [ { "evidence": [ { "id": "Q0VDF9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q0VDF9" } ], "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": "10", "chr_pos": "14848641", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A85", "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": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "481", "end_pos": "481" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q0VDF9-1.75.75", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q0VDF9-1.76.76", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q0VDF9-1.87.87", "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": "Q0VDF9-1.481.481", "start_pos": 481, "end_pos": 481, "uniprot_canonical_ac": "Q0VDF9-1", "length": 509, "uniprot_id": "HSP7E_HUMAN", "protein_name": "Heat shock 70 kDa protein 14", "refseq_ac": "NP_057383", "refseq_name": "heat shock 70 kDa protein 14", "gene_name": "HSPA14", "gene_names_uniprotkb": "HSPA14; HSP60; HSP70L1", "gene_names_refseq": "HSP70-4; HSP70L1; HSPA14", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0VDF9", "url": "https://www.uniprot.org/uniprotkb/Q0VDF9" } ], "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": "Q0VDF9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q0VDF9" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q0VDF9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q0VDF9", "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": "VVLQDLDKKENGLRDILAVL", "down_seq": "MKRDGSLHVTCTDQETGKCE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q0VDF9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q0VDF9" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr481" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "481", "end_pos": "481" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q0VDF9-1.485.485", "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": "Q0VDF9-1.75.75", "start_pos": 75, "end_pos": 75, "uniprot_canonical_ac": "Q0VDF9-1", "length": 509, "uniprot_id": "HSP7E_HUMAN", "protein_name": "Heat shock 70 kDa protein 14", "refseq_ac": "NP_057383", "refseq_name": "heat shock 70 kDa protein 14", "gene_name": "HSPA14", "gene_names_uniprotkb": "HSPA14; HSP60; HSP70L1", "gene_names_refseq": "HSP70-4; HSP70L1; HSPA14", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0VDF9", "url": "https://www.uniprot.org/uniprotkb/Q0VDF9" } ], "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": "Q0VDF9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q0VDF9" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q0VDF9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q0VDF9", "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": "SRIRNISNTVMKVKQILGRS", "down_seq": "SDPQAQKYIAESKCLVIEKN", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q0VDF9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q0VDF9" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser75" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "481", "end_pos": "481" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q0VDF9-1.59.59", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q0VDF9-1.76.76", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q0VDF9-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q0VDF9-1.87.87", "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": "Q0VDF9-1.76.76", "start_pos": 76, "end_pos": 76, "uniprot_canonical_ac": "Q0VDF9-1", "length": 509, "uniprot_id": "HSP7E_HUMAN", "protein_name": "Heat shock 70 kDa protein 14", "refseq_ac": "NP_057383", "refseq_name": "heat shock 70 kDa protein 14", "gene_name": "HSPA14", "gene_names_uniprotkb": "HSPA14; HSP60; HSP70L1", "gene_names_refseq": "HSP70-4; HSP70L1; HSPA14", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0VDF9", "url": "https://www.uniprot.org/uniprotkb/Q0VDF9" } ], "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": "Q0VDF9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q0VDF9" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q0VDF9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q0VDF9", "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": "RIRNISNTVMKVKQILGRSS", "down_seq": "DPQAQKYIAESKCLVIEKNG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q0VDF9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q0VDF9" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser76" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "481", "end_pos": "481" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q0VDF9-1.59.59", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q0VDF9-1.75.75", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q0VDF9-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q0VDF9-1.87.87", "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": "Q0VDF9-1.87.87", "start_pos": 87, "end_pos": 87, "uniprot_canonical_ac": "Q0VDF9-1", "length": 509, "uniprot_id": "HSP7E_HUMAN", "protein_name": "Heat shock 70 kDa protein 14", "refseq_ac": "NP_057383", "refseq_name": "heat shock 70 kDa protein 14", "gene_name": "HSPA14", "gene_names_uniprotkb": "HSPA14; HSP60; HSP70L1", "gene_names_refseq": "HSP70-4; HSP70L1; HSPA14", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0VDF9", "url": "https://www.uniprot.org/uniprotkb/Q0VDF9" } ], "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": "Q0VDF9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q0VDF9" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q0VDF9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q0VDF9", "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": "VKQILGRSSSDPQAQKYIAE", "down_seq": "KCLVIEKNGKLRYEIDTGEE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q0VDF9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q0VDF9" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser87" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "481", "end_pos": "481" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q0VDF9-1.75.75", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q0VDF9-1.76.76", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q0VDF9-1.85.85", "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": "Q9H9V9-3.73.73", "start_pos": 73, "end_pos": 73, "uniprot_canonical_ac": "Q9H9V9-3", "length": 417, "uniprot_id": "JMJD4_HUMAN", "protein_name": "2-oxoglutarate and iron-dependent oxygenase JMJD4", "refseq_ac": "NP_001154937", "refseq_name": "2-oxoglutarate and iron-dependent oxygenase JMJD4 isoform 2", "gene_name": "JMJD4", "gene_names_uniprotkb": "JMJD4", "gene_names_refseq": "JMJD4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H9V9", "url": "https://www.uniprot.org/uniprotkb/Q9H9V9" } ], "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": "rs1660988267", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1660988267", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1660988267", "url": "https://www.ensembl.org/id/rs1660988267", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LPCVFSSAFTQGWGSRRRWV", "down_seq": "PAGRPDFDHLLRTYGDVVVP", "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": "Thr73", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs1660988267", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1660988267" }, { "id": "rs1660988267", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1660988267" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "1", "chr_pos": "227735057", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T73", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "73", "end_pos": "73" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "189", "end_pos": "189" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9H9V9-3.54.54", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H9V9-3.189.189", "start_pos": 189, "end_pos": 189, "uniprot_canonical_ac": "Q9H9V9-3", "length": 417, "uniprot_id": "JMJD4_HUMAN", "protein_name": "2-oxoglutarate and iron-dependent oxygenase JMJD4", "refseq_ac": "NP_001154937", "refseq_name": "2-oxoglutarate and iron-dependent oxygenase JMJD4 isoform 2", "gene_name": "JMJD4", "gene_names_uniprotkb": "JMJD4", "gene_names_refseq": "JMJD4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H9V9", "url": "https://www.uniprot.org/uniprotkb/Q9H9V9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Optimal translational termination requires C4 lysyl hydroxylation of eRF1.", "journal": "Molecular cell", "date": "2014", "authors": "Feng T, Yamamoto A, Wilkins SE, Sokolova E, Yates LA, Munzel M, Singh P, Hopkinson RJ, Fischer R, Cockman ME, Shelley J, Trudgian DC, Schodel J, McCullagh JS, Ge W, Kessler BM, Gilbert RJ, Frolova LY, Alkalaeva E, Ratcliffe PJ, Schofield CJ, Coleman ML", "evidence": [ { "database": "UniProtKB", "id": "Q9H9V9", "url": "https://www.uniprot.org/uniprotkb/Q9H9V9" }, { "database": "Reactome", "id": "R-HSA-9629569", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9629569" } ], "reference": [ { "type": "PubMed", "id": "24486019", "url": "https://glygen.org/publication/PubMed/24486019" } ] } ], "crossref": [ { "id": "Q9H9V9", "url": "https://www.uniprot.org/uniprotkb/Q9H9V9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24486019", "url": "https://glygen.org/publication/PubMed/24486019", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "LDVDDYRFVYAGPAGSWSPF", "down_seq": "ADIFRSFSWSVNVCGRKKWL", "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Loss of interaction with ETF1 and its ability to hydroxylate ETF1.", "evidence": [ { "database": "UniProtKB", "id": "Q9H9V9", "url": "https://www.uniprot.org/uniprotkb/Q9H9V9" }, { "database": "PubMed", "id": "24486019", "url": "https://glygen.org/publication/PubMed/24486019" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "73", "end_pos": "73" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "189", "end_pos": "189" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "73", "end_pos": "73" } ] } ], "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": "Q9H9V9-3.105.105", "start_pos": 105, "end_pos": 105, "uniprot_canonical_ac": "Q9H9V9-3", "length": 417, "uniprot_id": "JMJD4_HUMAN", "protein_name": "2-oxoglutarate and iron-dependent oxygenase JMJD4", "refseq_ac": "NP_001154937", "refseq_name": "2-oxoglutarate and iron-dependent oxygenase JMJD4 isoform 2", "gene_name": "JMJD4", "gene_names_uniprotkb": "JMJD4", "gene_names_refseq": "JMJD4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H9V9", "url": "https://www.uniprot.org/uniprotkb/Q9H9V9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1660955834", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1660955834", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1660955834", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1660955834", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "RTYGDVVVPVANCGVQEYNS", "down_seq": "PKEHMTLRDYITYWKEYIQA", "snv": [ { "evidence": [ { "id": "rs1660955834", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1660955834" }, { "id": "rs1660955834", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1660955834" } ], "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": "1", "chr_pos": "227734765", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N105", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "73", "end_pos": "73" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "189", "end_pos": "189" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H9V9-3.165.165", "start_pos": 165, "end_pos": 165, "uniprot_canonical_ac": "Q9H9V9-3", "length": 417, "uniprot_id": "JMJD4_HUMAN", "protein_name": "2-oxoglutarate and iron-dependent oxygenase JMJD4", "refseq_ac": "NP_001154937", "refseq_name": "2-oxoglutarate and iron-dependent oxygenase JMJD4 isoform 2", "gene_name": "JMJD4", "gene_names_uniprotkb": "JMJD4", "gene_names_refseq": "JMJD4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H9V9", "url": "https://www.uniprot.org/uniprotkb/Q9H9V9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs776548711", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776548711", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs776548711", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776548711", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs776548711", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776548711", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "FPVEDVFTLPVYFSSDWLNE", "down_seq": "WDALDVDDYRFVYAGPAGSW", "snv": [ { "evidence": [ { "id": "rs776548711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776548711" }, { "id": "rs776548711", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776548711" }, { "id": "rs776548711", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776548711" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NEF->NEC).", "chr_id": "1", "chr_pos": "227733967", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F165", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "73", "end_pos": "73" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "189", "end_pos": "189" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H9V9-3.227.227", "start_pos": 227, "end_pos": 227, "uniprot_canonical_ac": "Q9H9V9-3", "length": 417, "uniprot_id": "JMJD4_HUMAN", "protein_name": "2-oxoglutarate and iron-dependent oxygenase JMJD4", "refseq_ac": "NP_001154937", "refseq_name": "2-oxoglutarate and iron-dependent oxygenase JMJD4 isoform 2", "gene_name": "JMJD4", "gene_names_uniprotkb": "JMJD4", "gene_names_refseq": "JMJD4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H9V9", "url": "https://www.uniprot.org/uniprotkb/Q9H9V9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1037837657", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1037837657", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1037837657", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1037837657#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "KWLLFPPGQEEALRDRHGNL", "down_seq": "YDVTSPALCDTHLHPRNQLA", "snv": [ { "evidence": [ { "id": "rs1037837657", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1037837657" }, { "id": "rs1037837657", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1037837657#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLP->NLS).", "chr_id": "1", "chr_pos": "227733557", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P227", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "73", "end_pos": "73" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "189", "end_pos": "189" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9H9V9-3.229.229", "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": "Q9H9V9-3.229.229", "start_pos": 229, "end_pos": 229, "uniprot_canonical_ac": "Q9H9V9-3", "length": 417, "uniprot_id": "JMJD4_HUMAN", "protein_name": "2-oxoglutarate and iron-dependent oxygenase JMJD4", "refseq_ac": "NP_001154937", "refseq_name": "2-oxoglutarate and iron-dependent oxygenase JMJD4 isoform 2", "gene_name": "JMJD4", "gene_names_uniprotkb": "JMJD4", "gene_names_refseq": "JMJD4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H9V9", "url": "https://www.uniprot.org/uniprotkb/Q9H9V9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs763227625", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763227625", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs763227625", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763227625", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs763227625", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763227625#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs763227625", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763227625", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs763227625", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs763227625", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LLFPPGQEEALRDRHGNLPY", "down_seq": "VTSPALCDTHLHPRNQLAGP", "snv": [ { "evidence": [ { "id": "rs763227625", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763227625" }, { "id": "rs763227625", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763227625" }, { "id": "rs763227625", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763227625#frequency_tab" }, { "id": "rs763227625", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763227625" }, { "id": "rs763227625", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs763227625" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DVT->NVT).", "chr_id": "1", "chr_pos": "227733551", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D229", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "73", "end_pos": "73" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "189", "end_pos": "189" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9H9V9-3.227.227", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H9V9-3.275.275", "start_pos": 275, "end_pos": 275, "uniprot_canonical_ac": "Q9H9V9-3", "length": 417, "uniprot_id": "JMJD4_HUMAN", "protein_name": "2-oxoglutarate and iron-dependent oxygenase JMJD4", "refseq_ac": "NP_001154937", "refseq_name": "2-oxoglutarate and iron-dependent oxygenase JMJD4 isoform 2", "gene_name": "JMJD4", "gene_names_uniprotkb": "JMJD4", "gene_names_refseq": "JMJD4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H9V9", "url": "https://www.uniprot.org/uniprotkb/Q9H9V9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H9V9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H9V9", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs779120288", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779120288", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs779120288", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779120288", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs779120288", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779120288", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "QEAGEMVFVPSGWHHQVHNL", "down_seq": "DTISINHNWVNGFNLANMWR", "snv": [ { "evidence": [ { "id": "Q9H9V9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H9V9" }, { "id": "rs779120288", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779120288" }, { "id": "rs779120288", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779120288" }, { "id": "rs779120288", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779120288" } ], "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 (DDT->NDT).", "chr_id": "1", "chr_pos": "227733551", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D275", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "73", "end_pos": "73" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "189", "end_pos": "189" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q9H9V9-3.283.283", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9H9V9-3.291.291", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H9V9-3.283.283", "start_pos": 283, "end_pos": 283, "uniprot_canonical_ac": "Q9H9V9-3", "length": 417, "uniprot_id": "JMJD4_HUMAN", "protein_name": "2-oxoglutarate and iron-dependent oxygenase JMJD4", "refseq_ac": "NP_001154937", "refseq_name": "2-oxoglutarate and iron-dependent oxygenase JMJD4 isoform 2", "gene_name": "JMJD4", "gene_names_uniprotkb": "JMJD4", "gene_names_refseq": "JMJD4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H9V9", "url": "https://www.uniprot.org/uniprotkb/Q9H9V9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1660772150", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1660772150", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1660772150", "url": "https://www.ensembl.org/id/rs1660772150", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "VPSGWHHQVHNLDDTISINH", "down_seq": "WVNGFNLANMWRFLQQELCA", "snv": [ { "evidence": [ { "id": "rs1660772150", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1660772150" }, { "id": "rs1660772150", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1660772150" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NHN->NHS).", "chr_id": "1", "chr_pos": "227733002", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N283", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "73", "end_pos": "73" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "189", "end_pos": "189" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q9H9V9-3.275.275", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9H9V9-3.291.291", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H9V9-3.291.291", "start_pos": 291, "end_pos": 291, "uniprot_canonical_ac": "Q9H9V9-3", "length": 417, "uniprot_id": "JMJD4_HUMAN", "protein_name": "2-oxoglutarate and iron-dependent oxygenase JMJD4", "refseq_ac": "NP_001154937", "refseq_name": "2-oxoglutarate and iron-dependent oxygenase JMJD4 isoform 2", "gene_name": "JMJD4", "gene_names_uniprotkb": "JMJD4", "gene_names_refseq": "JMJD4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H9V9", "url": "https://www.uniprot.org/uniprotkb/Q9H9V9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1660770589", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1660770589", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1660770589", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1660770589#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "VHNLDDTISINHNWVNGFNL", "down_seq": "NMWRFLQQELCAVQEEVSEW", "snv": [ { "evidence": [ { "id": "rs1660770589", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1660770589" }, { "id": "rs1660770589", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1660770589#frequency_tab" } ], "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": "1", "chr_pos": "227732979", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A291", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "73", "end_pos": "73" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "189", "end_pos": "189" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9H9V9-3.275.275", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9H9V9-3.283.283", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H9V9-3.54.54", "start_pos": 54, "end_pos": 54, "uniprot_canonical_ac": "Q9H9V9-3", "length": 417, "uniprot_id": "JMJD4_HUMAN", "protein_name": "2-oxoglutarate and iron-dependent oxygenase JMJD4", "refseq_ac": "NP_001154937", "refseq_name": "2-oxoglutarate and iron-dependent oxygenase JMJD4 isoform 2", "gene_name": "JMJD4", "gene_names_uniprotkb": "JMJD4", "gene_names_refseq": "JMJD4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H9V9", "url": "https://www.uniprot.org/uniprotkb/Q9H9V9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1660994394", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1660994394", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1660994394", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1660994394#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "SEPGAFSYADFVRGFLLPNL", "down_seq": "CVFSSAFTQGWGSRRRWVTP", "snv": [ { "evidence": [ { "id": "rs1660994394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1660994394" }, { "id": "rs1660994394", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1660994394#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLP->NLS).", "chr_id": "1", "chr_pos": "227735114", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P54", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "73", "end_pos": "73" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "189", "end_pos": "189" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "Q9H9V9-3.73.73", "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": "P05981-1.112.112", "start_pos": 112, "end_pos": 112, "uniprot_canonical_ac": "P05981-1", "length": 417, "uniprot_id": "HEPS_HUMAN", "protein_name": "Serine protease hepsin", "refseq_ac": "NP_002142", "refseq_name": "serine protease hepsin precursor", "gene_name": "HPN", "gene_names_uniprotkb": "HPN; TMPRSS1", "gene_names_refseq": "HPN; TMPRSS1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprotkb/P05981" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Integrated glycoproteomic characterization of clear cell renal cell carcinoma.", "journal": "Cell reports", "date": "2023-05-30", "authors": "Lih T Mamie, Cho Kyung-Cho, Schnaubelt Michael, Hu Yingwei, Zhang Hui", "evidence": [ { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "reference": [ { "type": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" } ] }, { "title": "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.", "journal": "Journal of proteome research", "date": "2009", "authors": "Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprotkb/P05981#ptm_processing" }, { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprotkb/P05981" } ], "reference": [ { "type": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "title": "N-glycan in the scavenger receptor cysteine-rich domain of hepsin promotes intracellular trafficking and cell surface expression.", "journal": "International journal of biological macromolecules", "date": "2020-10-15", "authors": "Sun Shijin, Wang Lina, Zhang Shengnan, Zhang Ce, Chen Yue, Wu Qingyu, Dong Ningzheng", "evidence": [ { "database": "GlyGen", "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481" } ], "reference": [ { "type": "PubMed", "id": "32553951", "url": "https://glygen.org/publication/PubMed/32553951" } ] } ], "crossref": [ { "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911", "database": "PubMed", "categories": [ "Other" ] }, { "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471", "database": "PDC", "categories": [ "Other" ] }, { "id": "P05981", "url": "https://www.uniprot.org/uniprotkb/P05981", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32553951", "url": "https://glygen.org/publication/PubMed/32553951", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs969048046", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs969048046", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs969048046", "url": "https://www.ncbi.nlm.nih.gov/snp/rs969048046#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "EMGFLRALTHSELDVRTAGA", "down_seq": "GTSGFFCVDEGRLPHTQRLL", "glycosylation": [ { "glytoucan_ac": "G01650EU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TAGAnGTSGFFCVDEGRLPHTQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn112", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G18647XP", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TAGAnGTSGFFCVDEGRLPHTQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn112", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G27058EU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TAGAnGTSGFFCVDEGRLPHTQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn112", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G41071NU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TAGAnGTSGFFCVDEGRLPHTQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn112", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G42124LM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TAGAnGTSGFFCVDEGRLPHTQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn112", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G47644PP", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TAGAnGTSGFFCVDEGRLPHTQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn112", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TAGAnGTSGFFCVDEGRLPHTQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn112", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G63041LO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TAGAnGTSGFFCVDEGRLPHTQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn112", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G65184UU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TAGAnGTSGFFCVDEGRLPHTQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn112", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TAGAnGTSGFFCVDEGRLPHTQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn112", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G87661QW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TAGAnGTSGFFCVDEGRLPHTQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn112", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G90659AW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TAGAnGTSGFFCVDEGRLPHTQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn112", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G92275SC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TAGAnGTSGFFCVDEGRLPHTQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn112", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true, "automatic_literature_mining": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn112", "evidence": [ { "id": "P05981", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P05981#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "32553951", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32553951" }, { "id": "GLY_000481", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000481" } ], "mining_tool": "GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "GlycoSiteMiner_1.0" } ] } ], "snv": [ { "evidence": [ { "id": "rs969048046", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs969048046" }, { "id": "rs969048046", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs969048046#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGT->SGT).", "chr_id": "19", "chr_pos": "35059918", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N112", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "112", "end_pos": "112" } ] }, { "type": "snv", "site_list": [ { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "P05981-1.114.114", "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": 14 }, { "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": 13 }, { "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": 13 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl", "mining_tool" ] }, { "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", "mining_tool" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 13 }, { "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": 13 }, { "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": 13 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl", "mining_tool" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "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", "mining_tool" ] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "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": "P05981-1.114.114", "start_pos": 114, "end_pos": 114, "uniprot_canonical_ac": "P05981-1", "length": 417, "uniprot_id": "HEPS_HUMAN", "protein_name": "Serine protease hepsin", "refseq_ac": "NP_002142", "refseq_name": "serine protease hepsin precursor", "gene_name": "HPN", "gene_names_uniprotkb": "HPN; TMPRSS1", "gene_names_refseq": "HPN; TMPRSS1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprotkb/P05981" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P05981", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P05981", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2064507511", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2064507511", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2064507511", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2064507511", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs2064507511", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2064507511", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GFLRALTHSELDVRTAGANG", "down_seq": "SGFFCVDEGRLPHTQRLLEV", "snv": [ { "evidence": [ { "id": "P05981", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P05981" }, { "id": "rs2064507511", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2064507511" }, { "id": "rs2064507511", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2064507511" }, { "id": "rs2064507511", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2064507511" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NGT->NGM).", "chr_id": "19", "chr_pos": "35059924", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T114", "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": "112", "end_pos": "112" } ] }, { "type": "snv", "site_list": [ { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "P05981-1.112.112", "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": "P05981-1.155.155", "start_pos": 155, "end_pos": 155, "uniprot_canonical_ac": "P05981-1", "length": 417, "uniprot_id": "HEPS_HUMAN", "protein_name": "Serine protease hepsin", "refseq_ac": "NP_002142", "refseq_name": "serine protease hepsin precursor", "gene_name": "HPN", "gene_names_uniprotkb": "HPN; TMPRSS1", "gene_names_refseq": "HPN; TMPRSS1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprotkb/P05981" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P05981", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P05981", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ISVCDCPRGRFLAAICQDCG", "down_seq": "RKLPVDRIVGGRDTSLGRWP", "snv": [ { "evidence": [ { "id": "P05981", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P05981" } ], "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": "35060356", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R155", "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": "112", "end_pos": "112" } ] }, { "type": "snv", "site_list": [ { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "P05981-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P05981-1.168.168", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P05981-1.162.162", "start_pos": 162, "end_pos": 162, "uniprot_canonical_ac": "P05981-1", "length": 417, "uniprot_id": "HEPS_HUMAN", "protein_name": "Serine protease hepsin", "refseq_ac": "NP_002142", "refseq_name": "serine protease hepsin precursor", "gene_name": "HPN", "gene_names_uniprotkb": "HPN; TMPRSS1", "gene_names_refseq": "HPN; TMPRSS1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprotkb/P05981" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P05981", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P05981", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RGRFLAAICQDCGRRKLPVD", "down_seq": "IVGGRDTSLGRWPWQVSLRY", "snv": [ { "evidence": [ { "id": "P05981", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P05981" } ], "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": "19", "chr_pos": "35060376", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R162", "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: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" ] }, { "evidence": [ { "id": "P05981", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P05981" } ], "glycoeffect": [], "subjects_tested": "719", "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": "35060377", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R162", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "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": "112", "end_pos": "112" } ] }, { "type": "snv", "site_list": [ { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "P05981-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P05981-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P05981-1.181.181", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_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": "P05981-1.168.168", "start_pos": 168, "end_pos": 168, "uniprot_canonical_ac": "P05981-1", "length": 417, "uniprot_id": "HEPS_HUMAN", "protein_name": "Serine protease hepsin", "refseq_ac": "NP_002142", "refseq_name": "serine protease hepsin precursor", "gene_name": "HPN", "gene_names_uniprotkb": "HPN; TMPRSS1", "gene_names_refseq": "HPN; TMPRSS1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprotkb/P05981" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P05981", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P05981", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "AICQDCGRRKLPVDRIVGGR", "down_seq": "TSLGRWPWQVSLRYDGAHLC", "snv": [ { "evidence": [ { "id": "P05981", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P05981" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DTS->NTS).", "chr_id": "19", "chr_pos": "35060394", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D168", "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": "112", "end_pos": "112" } ] }, { "type": "snv", "site_list": [ { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "P05981-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P05981-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P05981-1.181.181", "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": "P05981-1.181.181", "start_pos": 181, "end_pos": 181, "uniprot_canonical_ac": "P05981-1", "length": 417, "uniprot_id": "HEPS_HUMAN", "protein_name": "Serine protease hepsin", "refseq_ac": "NP_002142", "refseq_name": "serine protease hepsin precursor", "gene_name": "HPN", "gene_names_uniprotkb": "HPN; TMPRSS1", "gene_names_refseq": "HPN; TMPRSS1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprotkb/P05981" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P05981", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P05981", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "DRIVGGRDTSLGRWPWQVSL", "down_seq": "YDGAHLCGGSLLSGDWVLTA", "snv": [ { "evidence": [ { "id": "P05981", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P05981" } ], "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": "19", "chr_pos": "35060433", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R181", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "112", "end_pos": "112" } ] }, { "type": "snv", "site_list": [ { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P05981-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P05981-1.168.168", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P05981-1.241.241", "start_pos": 241, "end_pos": 241, "uniprot_canonical_ac": "P05981-1", "length": 417, "uniprot_id": "HEPS_HUMAN", "protein_name": "Serine protease hepsin", "refseq_ac": "NP_002142", "refseq_name": "serine protease hepsin precursor", "gene_name": "HPN", "gene_names_uniprotkb": "HPN; TMPRSS1", "gene_names_refseq": "HPN; TMPRSS1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprotkb/P05981" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P05981", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P05981", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "AVAQASPHGLQLGVQAVVYH", "down_seq": "GYLPFRDPNSEENSNDIALV", "snv": [ { "evidence": [ { "id": "P05981", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P05981" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "35060727", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G241", "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: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": "112", "end_pos": "112" } ] }, { "type": "snv", "site_list": [ { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "P05981-1.247.247", "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": "P05981-1.247.247", "start_pos": 247, "end_pos": 247, "uniprot_canonical_ac": "P05981-1", "length": 417, "uniprot_id": "HEPS_HUMAN", "protein_name": "Serine protease hepsin", "refseq_ac": "NP_002142", "refseq_name": "serine protease hepsin precursor", "gene_name": "HPN", "gene_names_uniprotkb": "HPN; TMPRSS1", "gene_names_refseq": "HPN; TMPRSS1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprotkb/P05981" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P05981", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P05981", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PHGLQLGVQAVVYHGGYLPF", "down_seq": "DPNSEENSNDIALVHLSSPL", "snv": [ { "evidence": [ { "id": "P05981", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P05981" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "35060745", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R247", "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" } ] }, { "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": "112", "end_pos": "112" } ] }, { "type": "snv", "site_list": [ { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "P05981-1.241.241", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P05981-1.320.320", "start_pos": 320, "end_pos": 320, "uniprot_canonical_ac": "P05981-1", "length": 417, "uniprot_id": "HEPS_HUMAN", "protein_name": "Serine protease hepsin", "refseq_ac": "NP_002142", "refseq_name": "serine protease hepsin precursor", "gene_name": "HPN", "gene_names_uniprotkb": "HPN; TMPRSS1", "gene_names_refseq": "HPN; TMPRSS1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprotkb/P05981" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs776101218", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776101218", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs776101218", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776101218", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs776101218", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776101218", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "QYYGQQAGVLQEARVPIISN", "down_seq": "VCNGADFYGNQIKPKMFCAG", "snv": [ { "evidence": [ { "id": "rs776101218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776101218" }, { "id": "rs776101218", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776101218" }, { "id": "rs776101218", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776101218" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DVC->NVC).", "chr_id": "19", "chr_pos": "35065589", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D320", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "112", "end_pos": "112" } ] }, { "type": "snv", "site_list": [ { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "P05981-1.325.325", "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": "P05981-1.325.325", "start_pos": 325, "end_pos": 325, "uniprot_canonical_ac": "P05981-1", "length": 417, "uniprot_id": "HEPS_HUMAN", "protein_name": "Serine protease hepsin", "refseq_ac": "NP_002142", "refseq_name": "serine protease hepsin precursor", "gene_name": "HPN", "gene_names_uniprotkb": "HPN; TMPRSS1", "gene_names_refseq": "HPN; TMPRSS1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprotkb/P05981" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P05981", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P05981", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs989267944", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs989267944", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs989267944", "url": "https://www.ncbi.nlm.nih.gov/snp/rs989267944#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs989267944", "url": "http://gnomad.broadinstitute.org/awesome?query=rs989267944", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs989267944", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs989267944", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "QAGVLQEARVPIISNDVCNG", "down_seq": "DFYGNQIKPKMFCAGYPEGG", "snv": [ { "evidence": [ { "id": "P05981", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P05981" }, { "id": "rs989267944", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs989267944" }, { "id": "rs989267944", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs989267944#frequency_tab" }, { "id": "rs989267944", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs989267944" }, { "id": "rs989267944", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs989267944" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "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": "19", "chr_pos": "35065604", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A325", "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": "112", "end_pos": "112" } ] }, { "type": "snv", "site_list": [ { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "P05981-1.320.320", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P05981-1.366.366", "start_pos": 366, "end_pos": 366, "uniprot_canonical_ac": "P05981-1", "length": 417, "uniprot_id": "HEPS_HUMAN", "protein_name": "Serine protease hepsin", "refseq_ac": "NP_002142", "refseq_name": "serine protease hepsin precursor", "gene_name": "HPN", "gene_names_uniprotkb": "HPN; TMPRSS1", "gene_names_refseq": "HPN; TMPRSS1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprotkb/P05981" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P05981", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P05981", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "IDACQGDSGGPFVCEDSISR", "down_seq": "PRWRLCGIVSWGTGCALAQK", "snv": [ { "evidence": [ { "id": "P05981", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P05981" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "35065914", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T366", "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" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "112", "end_pos": "112" } ] }, { "type": "snv", "site_list": [ { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "P05981-1.368.368", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P05981-1.368.368", "start_pos": 368, "end_pos": 368, "uniprot_canonical_ac": "P05981-1", "length": 417, "uniprot_id": "HEPS_HUMAN", "protein_name": "Serine protease hepsin", "refseq_ac": "NP_002142", "refseq_name": "serine protease hepsin precursor", "gene_name": "HPN", "gene_names_uniprotkb": "HPN; TMPRSS1", "gene_names_refseq": "HPN; TMPRSS1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprotkb/P05981" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P05981", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P05981", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ACQGDSGGPFVCEDSISRTP", "down_seq": "WRLCGIVSWGTGCALAQKPG", "snv": [ { "evidence": [ { "id": "P05981", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P05981" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "35065920", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R368", "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: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": "112", "end_pos": "112" } ] }, { "type": "snv", "site_list": [ { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "P05981-1.366.366", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P05981-1.74.74", "start_pos": 74, "end_pos": 74, "uniprot_canonical_ac": "P05981-1", "length": 417, "uniprot_id": "HEPS_HUMAN", "protein_name": "Serine protease hepsin", "refseq_ac": "NP_002142", "refseq_name": "serine protease hepsin precursor", "gene_name": "HPN", "gene_names_uniprotkb": "HPN; TMPRSS1", "gene_names_refseq": "HPN; TMPRSS1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P05981", "url": "https://www.uniprot.org/uniprotkb/P05981" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P05981", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P05981", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VQVSSADARLMVFDKTEGTW", "down_seq": "LLCSSRSNARVAGLSCEEMG", "snv": [ { "evidence": [ { "id": "P05981", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P05981" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "35059732", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R74", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "112", "end_pos": "112" } ] }, { "type": "snv", "site_list": [ { "start_pos": "112", "end_pos": "112" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "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": "P32942-1.101.101", "start_pos": 101, "end_pos": 101, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "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": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942", "database": "UniProtKB", "categories": [ "Protein" ] }, { "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": "rs1304202349", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1304202349", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1304202349", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1304202349#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1304202349", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1304202349", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "AAFNLSNVTGNSRILCSVYC", "down_seq": "GSQITGSSNITVYRLPERVE", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn101", "evidence": [ { "id": "P32942", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P32942#ptm_processing" }, { "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": "rs1304202349", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1304202349" }, { "id": "rs1304202349", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1304202349#frequency_tab" }, { "id": "rs1304202349", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1304202349" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NGS->SGS); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10338723", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N101", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P32942-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.87.87", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.110.110", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.121.121", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 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": "P32942-1.110.110", "start_pos": 110, "end_pos": 110, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "An atomic resolution view of ICAM recognition in a complex between the binding domains of ICAM-3 and integrin alphaLbeta2.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Song G, Yang Y, Liu JH, Casasnovas JM, Shimaoka M, Springer TA, Wang JH", "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942#ptm_processing" }, { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "reference": [ { "type": "PubMed", "id": "15728350", "url": "https://glygen.org/publication/PubMed/15728350" } ] }, { "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": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "15728350", "url": "https://glygen.org/publication/PubMed/15728350", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "1T0P", "url": "https://www.rcsb.org/structure/1T0P", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1T0P|B|81", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "rs1156978384", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1156978384", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1156978384", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1156978384", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "GNSRILCSVYCNGSQITGSS", "down_seq": "ITVYRLPERVELAPLPPWQP", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=1T0P&bu=0&command=select+.B:81;+center+selection;+zoom+selection" }, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn110", "evidence": [ { "id": "P32942", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P32942#ptm_processing" }, { "id": "15728350", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/15728350" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "1T0P", "database": "PDB", "url": "https://www.rcsb.org/structure/1T0P" } ] } ], "snv": [ { "evidence": [ { "id": "rs1156978384", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1156978384" }, { "id": "rs1156978384", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1156978384" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NIT->IIT); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10338696", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N110", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P32942-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.101.101", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.130.130", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "icn3d_view.label", "icn3d_view.url", "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", "icn3d_view.label", "icn3d_view.url", "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": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P32942-1.134.134", "start_pos": 134, "end_pos": 134, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Integrated glycoproteomic characterization of clear cell renal cell carcinoma.", "journal": "Cell reports", "date": "2023-05-30", "authors": "Lih T Mamie, Cho Kyung-Cho, Schnaubelt Michael, Hu Yingwei, Zhang Hui", "evidence": [ { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "reference": [ { "type": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" } ] }, { "title": "Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins.", "journal": "Nature biotechnology", "date": "2009", "authors": "Wollscheid B, Bausch-Fluck D, Henderson C, O'Brien R, Bibel M, Schiess R, Aebersold R, Watts JD", "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942#ptm_processing" }, { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "reference": [ { "type": "PubMed", "id": "19349973", "url": "https://glygen.org/publication/PubMed/19349973" } ] }, { "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": "37074911", "url": "https://glygen.org/publication/PubMed/37074911", "database": "PubMed", "categories": [ "Other" ] }, { "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471", "database": "PDC", "categories": [ "Other" ] }, { "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19349973", "url": "https://glygen.org/publication/PubMed/19349973", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs763128013", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763128013", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs763128013", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763128013", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs763128013", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763128013", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1599312688", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1599312688", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1599312688", "url": "https://www.ensembl.org/id/rs1599312688", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "YRLPERVELAPLPPWQPVGQ", "down_seq": "FTLRCQVEDGSPRTSLTVVL", "glycosylation": [ { "glytoucan_ac": "G53075ES", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VELAPLPPWQPVGQnFTLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn134", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VELAPLPPWQPVGQnFTLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn134", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G70232NH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VELAPLPPWQPVGQnFTLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn134", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn134", "evidence": [ { "id": "P32942", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P32942#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "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": "rs763128013", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763128013" }, { "id": "rs763128013", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763128013" }, { "id": "rs763128013", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763128013" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NFT->KFT); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335918", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N134", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1599312688", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1599312688" }, { "id": "rs1599312688", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1599312688" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NFT->TFT); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335919", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N134", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P32942-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.136.136", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.149.149", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.151.151", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.152.152", "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": 4 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 3 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 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": 3 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 3 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P32942-1.176.176", "start_pos": 176, "end_pos": 176, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "P32942", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P32942" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] } ], "crossref": [ { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P32942", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P32942", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "P32942", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "RWEEELSRQPAVEEPAEVTA", "down_seq": "VLASRDDHGAPFSCRTELDM", "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": "Thr176", "evidence": [ { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "P32942", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P32942" } ] } ], "snv": [ { "evidence": [ { "id": "P32942", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 2 filters: o-glyco-site-loss (T->I); protein-of-interest(glycogene, lectin/i-type/non-siglec).", "chr_id": "19", "chr_pos": "10335793", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T176", "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": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.166.166", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.167.167", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.171.171", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.178.178", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.180.180", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.183.183", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.185.185", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.189.189", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.190.190", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.191.191", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.196.196", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P32942-1.180.180", "start_pos": 180, "end_pos": 180, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "P32942", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P32942" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] } ], "crossref": [ { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P32942", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P32942", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "rs2040591063", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2040591063", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2040591063", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2040591063#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs2040591063", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2040591063", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P32942", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs747564030", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747564030", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs747564030", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747564030", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs747564030", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747564030#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs747564030", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747564030", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ELSRQPAVEEPAEVTATVLA", "down_seq": "RDDHGAPFSCRTELDMQPQG", "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": "Ser180", "evidence": [ { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "P32942", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P32942" } ] } ], "snv": [ { "evidence": [ { "id": "rs2040591063", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2040591063" }, { "id": "rs2040591063", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2040591063#frequency_tab" }, { "id": "rs2040591063", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2040591063" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (S->G); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335782", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S180", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P32942", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942" }, { "id": "rs747564030", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747564030" }, { "id": "rs747564030", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747564030" }, { "id": "rs747564030", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747564030#frequency_tab" }, { "id": "rs747564030", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747564030" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 2 filters: o-glyco-site-loss (S->N); protein-of-interest(glycogene, lectin/i-type/non-siglec).", "chr_id": "19", "chr_pos": "10335781", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S180", "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": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.166.166", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.167.167", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.171.171", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.176.176", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.178.178", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.183.183", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.185.185", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.189.189", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.190.190", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.191.191", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.200.200", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P32942-1.189.189", "start_pos": 189, "end_pos": 189, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Extended O-GlcNAc on HLA Class-I-Bound Peptides.", "journal": "Journal of the American Chemical Society", "date": "2015", "authors": "Marino F, Bern M, Mommen GPM, Leney AC, van Gaans-van den Brink JAM, Bonvin AMJJ, Becker C, van Els CACM, Heck AJR", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "P32942", "url": "https://oglcnac.org/atlas/detail/P32942" } ], "reference": [ { "type": "PubMed", "id": "26280087", "url": "https://glygen.org/publication/PubMed/26280087" } ] } ], "crossref": [ { "id": "26280087", "url": "https://glygen.org/publication/PubMed/26280087", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P32942", "url": "https://oglcnac.org/atlas/detail/P32942", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P32942", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs765324270", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765324270", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs765324270", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765324270", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs765324270", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765324270", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EPAEVTATVLASRDDHGAPF", "down_seq": "CRTELDMQPQGLGLFVNTSA", "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": "Ser189", "evidence": [ { "id": "26280087", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26280087" }, { "id": "P32942", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P32942" } ] } ], "snv": [ { "evidence": [ { "id": "P32942", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "S", "sequence_mut": "*", "comment": "Somatic mutation passed 2 filters: o-glyco-site-loss (S->*); protein-of-interest(glycogene, lectin/i-type/non-siglec).", "chr_id": "19", "chr_pos": "10335754", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S189", "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": "rs765324270", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765324270" }, { "id": "rs765324270", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765324270" }, { "id": "rs765324270", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765324270" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (S->L); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335754", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S189", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.171.171", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.176.176", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.178.178", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.180.180", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.183.183", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.185.185", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.190.190", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.191.191", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.205.205", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.206.206", "categories": [ "glycosylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.207.207", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.209.209", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "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": "P32942-1.206.206", "start_pos": 206, "end_pos": 206, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Integrated glycoproteomic characterization of clear cell renal cell carcinoma.", "journal": "Cell reports", "date": "2023-05-30", "authors": "Lih T Mamie, Cho Kyung-Cho, Schnaubelt Michael, Hu Yingwei, Zhang Hui", "evidence": [ { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "reference": [ { "type": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" } ] }, { "title": "Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins.", "journal": "Nature biotechnology", "date": "2009", "authors": "Wollscheid B, Bausch-Fluck D, Henderson C, O'Brien R, Bibel M, Schiess R, Aebersold R, Watts JD", "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942#ptm_processing" }, { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "reference": [ { "type": "PubMed", "id": "19349973", "url": "https://glygen.org/publication/PubMed/19349973" } ] }, { "title": "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.", "journal": "Journal of proteome research", "date": "2009", "authors": "Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942#ptm_processing" }, { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "reference": [ { "type": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "title": "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.", "journal": "Journal of proteome research", "date": "2005", "authors": "Liu T, Qian WJ, Gritsenko MA, Camp DG 2nd, Monroe ME, Moore RJ, Smith RD", "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942#ptm_processing" }, { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "reference": [ { "type": "PubMed", "id": "16335952", "url": "https://glygen.org/publication/PubMed/16335952" } ] }, { "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": "37074911", "url": "https://glygen.org/publication/PubMed/37074911", "database": "PubMed", "categories": [ "Other" ] }, { "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471", "database": "PDC", "categories": [ "Other" ] }, { "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19349973", "url": "https://glygen.org/publication/PubMed/19349973", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16335952", "url": "https://glygen.org/publication/PubMed/16335952", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "APFSCRTELDMQPQGLGLFV", "down_seq": "TSAPRQLRTFVLPVTPPRLV", "glycosylation": [ { "glytoucan_ac": "G27058EU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TELDMQPQGLGLFVnTSAPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn206", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G45395BF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TELDMQPQGLGLFVnTSAPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn206", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G57776ZS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TELDMQPQGLGLFVnTSAPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn206", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G79666IR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TELDMQPQGLGLFVnTSAPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn206", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G80075MS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TELDMQPQGLGLFVnTSAPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn206", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TELDMQPQGLGLFVnTSAPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn206", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G90659AW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TELDMQPQGLGLFVnTSAPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn206", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn206", "evidence": [ { "id": "P32942", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P32942#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "16335952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16335952" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.189.189", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.190.190", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.191.191", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.205.205", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.207.207", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.209.209", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.212.212", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.213.213", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.221.221", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.225.225", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.226.226", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 7 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 7 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 7 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 7 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P32942-1.221.221", "start_pos": 221, "end_pos": 221, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "P32942", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P32942" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] } ], "crossref": [ { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P32942", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P32942", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs756208899", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756208899", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs756208899", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756208899", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs756208899", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756208899", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs756208899", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs756208899", "database": "COSMIC", "categories": [ "Other" ] }, { "id": "rs1599311686", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1599311686", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1599311686", "url": "https://www.ensembl.org/id/rs1599311686", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LGLFVNTSAPRQLRTFVLPV", "down_seq": "PPRLVAPRFLEVETSWPVDC", "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": "Thr221", "evidence": [ { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "P32942", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P32942" } ] }, { "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": "Thr221", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs756208899", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756208899" }, { "id": "rs756208899", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756208899" }, { "id": "rs756208899", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756208899" }, { "id": "rs756208899", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs756208899" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 2 filters: o-glyco-site-loss (T->I); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335341", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T221", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1599311686", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1599311686" }, { "id": "rs1599311686", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1599311686" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->P); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335342", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T221", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P32942-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.205.205", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.206.206", "categories": [ "glycosylation_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.207.207", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.209.209", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.212.212", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.213.213", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.225.225", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.240.240", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.241.241", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_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": 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": "P32942-1.264.264", "start_pos": 264, "end_pos": 264, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs762198464", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762198464", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs762198464", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762198464#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "DGLFPASEAQVYLALGDQML", "down_seq": "ATVMNHGDTLTATATATARA", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn264", "evidence": [ { "id": "P32942", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P32942#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs762198464", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762198464" }, { "id": "rs762198464", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762198464#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NAT->SAT); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335212", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N264", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762198464", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762198464" }, { "id": "rs762198464", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762198464#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NAT->TAT); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335212", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N264", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.245.245", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.246.246", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.254.254", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.256.256", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.265.265", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.273.273", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.274.274", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.282.282", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.283.283", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P32942-1.295.295", "start_pos": 295, "end_pos": 295, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Integrated glycoproteomic characterization of clear cell renal cell carcinoma.", "journal": "Cell reports", "date": "2023-05-30", "authors": "Lih T Mamie, Cho Kyung-Cho, Schnaubelt Michael, Hu Yingwei, Zhang Hui", "evidence": [ { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "reference": [ { "type": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" } ] }, { "title": "Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins.", "journal": "Nature biotechnology", "date": "2009", "authors": "Wollscheid B, Bausch-Fluck D, Henderson C, O'Brien R, Bibel M, Schiess R, Aebersold R, Watts JD", "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942#ptm_processing" }, { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "reference": [ { "type": "PubMed", "id": "19349973", "url": "https://glygen.org/publication/PubMed/19349973" } ] }, { "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" } ] }, { "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": "37074911", "url": "https://glygen.org/publication/PubMed/37074911", "database": "PubMed", "categories": [ "Other" ] }, { "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471", "database": "PDC", "categories": [ "Other" ] }, { "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19349973", "url": "https://glygen.org/publication/PubMed/19349973", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "TATATATARADQEGAREIVC", "down_seq": "VTLGGERREARENLTVFSFL", "glycosylation": [ { "glytoucan_ac": "G02528FI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EIVCnVTLGGER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn295", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G27947YN", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EIVCnVTLGGER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn295", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G29545VG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EIVCnVTLGGER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn295", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G35541EV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EIVCnVTLGGER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn295", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G37818NZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EIVCnVTLGGER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn295", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G40926MX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EIVCnVTLGGER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn295", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G43669FQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EIVCnVTLGGER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn295", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G44753VC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EIVCnVTLGGER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn295", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G59626AS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EIVCnVTLGGER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn295", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EIVCnVTLGGER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn295", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G80479JV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EIVCnVTLGGER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn295", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EIVCnVTLGGERR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn295", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn295", "evidence": [ { "id": "P32942", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P32942#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.282.282", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.298.298", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.302.302", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.308.308", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.313.313", "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": 13 }, { "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": 12 }, { "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": 12 } ], "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": 12 }, { "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": 12 }, { "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": 12 } ], "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": "P32942-1.308.308", "start_pos": 308, "end_pos": 308, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs867017111", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867017111", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs867017111", "url": "https://www.ncbi.nlm.nih.gov/snp/rs867017111#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs867017111", "url": "http://gnomad.broadinstitute.org/awesome?query=rs867017111", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "GAREIVCNVTLGGERREARE", "down_seq": "LTVFSFLGPIVNLSEPTAHE", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn308", "evidence": [ { "id": "P32942", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P32942#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs867017111", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867017111" }, { "id": "rs867017111", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs867017111#frequency_tab" }, { "id": "rs867017111", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs867017111" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NLT->ILT); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335080", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N308", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs867017111", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867017111" }, { "id": "rs867017111", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs867017111#frequency_tab" }, { "id": "rs867017111", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs867017111" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NLT->SLT); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335080", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N308", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs867017111", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867017111" }, { "id": "rs867017111", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs867017111#frequency_tab" }, { "id": "rs867017111", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs867017111" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NLT->TLT); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335080", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N308", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P32942-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.295.295", "categories": [ "glycosylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.298.298", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.302.302", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.320.320", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.328.328", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "P32942-1.320.320", "start_pos": 320, "end_pos": 320, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs779683160", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779683160", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs779683160", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779683160", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs779683160", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779683160", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs2040568327", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2040568327", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2040568327", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2040568327#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1232633011", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1232633011", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1232633011", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1232633011", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "GERREARENLTVFSFLGPIV", "down_seq": "LSEPTAHEGSTVTVSCMAGA", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn320", "evidence": [ { "id": "P32942", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P32942#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs779683160", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779683160" }, { "id": "rs779683160", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779683160" }, { "id": "rs779683160", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779683160" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NLS->KLS); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10334760", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N320", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2040568327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2040568327" }, { "id": "rs2040568327", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2040568327#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NLS->TLS); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10334761", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N320", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1232633011", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1232633011" }, { "id": "rs1232633011", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1232633011" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NLS->YLS); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10334762", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N320", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.302.302", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.308.308", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.329.329", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.340.340", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "P32942-1.363.363", "start_pos": 363, "end_pos": 363, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins.", "journal": "Nature biotechnology", "date": "2009", "authors": "Wollscheid B, Bausch-Fluck D, Henderson C, O'Brien R, Bibel M, Schiess R, Aebersold R, Watts JD", "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942#ptm_processing" }, { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "reference": [ { "type": "PubMed", "id": "19349973", "url": "https://glygen.org/publication/PubMed/19349973" } ] }, { "title": "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.", "journal": "Journal of proteome research", "date": "2009", "authors": "Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942#ptm_processing" }, { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "reference": [ { "type": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "title": "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.", "journal": "Journal of proteome research", "date": "2005", "authors": "Liu T, Qian WJ, Gritsenko MA, Camp DG 2nd, Monroe ME, Moore RJ, Smith RD", "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942#ptm_processing" }, { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "reference": [ { "type": "PubMed", "id": "16335952", "url": "https://glygen.org/publication/PubMed/16335952" } ] } ], "crossref": [ { "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19349973", "url": "https://glygen.org/publication/PubMed/19349973", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16335952", "url": "https://glygen.org/publication/PubMed/16335952", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P32942", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs144377929", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144377929", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs144377929", "url": "https://www.ncbi.nlm.nih.gov/snp/rs144377929#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs144377929", "url": "http://gnomad.broadinstitute.org/awesome?query=rs144377929", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "QVTLDGVPAAAPGQPAQLQL", "down_seq": "ATESDDGRSFFCSATLEVDG", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn363", "evidence": [ { "id": "P32942", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P32942#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "16335952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16335952" } ] } ], "snv": [ { "evidence": [ { "id": "P32942", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "I", "comment": "Somatic mutation passed 2 filters: n-glyco-sequon-loss (NAT->IAT); protein-of-interest(glycogene, lectin/i-type/non-siglec).", "chr_id": "19", "chr_pos": "10334632", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "N363", "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": "rs144377929", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144377929" }, { "id": "rs144377929", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs144377929#frequency_tab" }, { "id": "rs144377929", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs144377929" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NAT->TAT); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10334632", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N363", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.348.348", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.350.350", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.370.370", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.383.383", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 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": 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": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P32942-1.389.389", "start_pos": 389, "end_pos": 389, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs1568316523", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1568316523", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1568316523", "url": "https://www.ensembl.org/id/rs1568316523", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs777134199", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777134199", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs777134199", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777134199", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs777134199", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777134199#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs777134199", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777134199", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "DGRSFFCSATLEVDGEFLHR", "down_seq": "SSVQLRVLYGPKIDRATCPQ", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn389", "evidence": [ { "id": "P32942", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P32942#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs1568316523", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1568316523" }, { "id": "rs1568316523", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1568316523" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NSS->HSS); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10334555", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N389", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777134199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777134199" }, { "id": "rs777134199", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777134199" }, { "id": "rs777134199", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777134199#frequency_tab" }, { "id": "rs777134199", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777134199" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NSS->KSS); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10334553", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N389", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P32942-1.370.370", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.392.392", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.396.396", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.397.397", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.398.398", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.400.400", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.402.402", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.405.405", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.409.409", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P32942-1.453.453", "start_pos": 453, "end_pos": 453, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "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": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942", "database": "UniProtKB", "categories": [ "Protein" ] }, { "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": "rs1266945318", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1266945318", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1266945318", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1266945318#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1266945318", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1266945318", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs2098229388", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2098229388", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2098229388", "url": "https://www.ensembl.org/id/rs2098229388", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LRCLKEGSSREVPVGIPFFV", "down_seq": "VTHNGTYQCQASSSRGKYTL", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn453", "evidence": [ { "id": "P32942", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P32942#ptm_processing" }, { "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": "rs1266945318", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1266945318" }, { "id": "rs1266945318", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1266945318#frequency_tab" }, { "id": "rs1266945318", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1266945318" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NVT->KVT); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10334242", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N453", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2098229388", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2098229388" }, { "id": "rs2098229388", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2098229388" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NVT->SVT); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10334243", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N453", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.434.434", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.435.435", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.437.437", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.438.438", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.439.439", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.442.442", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.446.446", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.447.447", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.448.448", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.450.450", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.451.451", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.452.452", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.454.454", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.455.455", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.456.456", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.457.457", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.460.460", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.461.461", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.462.462", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.464.464", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.465.465", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.466.466", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.467.467", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.469.469", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.471.471", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.472.472", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 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": 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": "P32942-1.457.457", "start_pos": 457, "end_pos": 457, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "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": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942", "database": "UniProtKB", "categories": [ "Protein" ] }, { "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": "rs926047550", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs926047550", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs926047550", "url": "https://www.ncbi.nlm.nih.gov/snp/rs926047550#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "KEGSSREVPVGIPFFVNVTH", "down_seq": "GTYQCQASSSRGKYTLVVVM", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn457", "evidence": [ { "id": "P32942", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P32942#ptm_processing" }, { "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": "rs926047550", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs926047550" }, { "id": "rs926047550", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs926047550#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NGT->YGT); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10334232", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N457", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.437.437", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.438.438", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.439.439", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.442.442", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.446.446", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.447.447", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.448.448", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.450.450", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.451.451", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.452.452", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.453.453", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.454.454", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.455.455", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.456.456", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.460.460", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.461.461", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.462.462", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.464.464", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.465.465", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.466.466", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.467.467", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.469.469", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.471.471", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.472.472", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.474.474", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.477.477", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 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": "P32942-1.52.52", "start_pos": 52, "end_pos": 52, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Integrated glycoproteomic characterization of clear cell renal cell carcinoma.", "journal": "Cell reports", "date": "2023-05-30", "authors": "Lih T Mamie, Cho Kyung-Cho, Schnaubelt Michael, Hu Yingwei, Zhang Hui", "evidence": [ { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "reference": [ { "type": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" } ] }, { "title": "An atomic resolution view of ICAM recognition in a complex between the binding domains of ICAM-3 and integrin alphaLbeta2.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Song G, Yang Y, Liu JH, Casasnovas JM, Shimaoka M, Springer TA, Wang JH", "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942#ptm_processing" }, { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "reference": [ { "type": "PubMed", "id": "15728350", "url": "https://glygen.org/publication/PubMed/15728350" } ] } ], "crossref": [ { "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911", "database": "PubMed", "categories": [ "Other" ] }, { "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471", "database": "PDC", "categories": [ "Other" ] }, { "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "15728350", "url": "https://glygen.org/publication/PubMed/15728350", "database": "PubMed", "categories": [ "Other" ] }, { "id": "1T0P", "url": "https://www.rcsb.org/structure/1T0P", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1T0P|B|23", "url": "", "database": "", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "FLLRVEPQNPVLSAGGSLFV", "down_seq": "CSTDCPSSEKIALETSLSKE", "glycosylation": [ { "glytoucan_ac": "G14972EH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VEPQNPVLSAGGSLFVnCSTDCPSSEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn52", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G28622IK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VEPQNPVLSAGGSLFVnCSTDCPSSEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn52", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G43223CG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VEPQNPVLSAGGSLFVnCSTDCPSSEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn52", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=1T0P&bu=0&command=select+.B:23;+center+selection;+zoom+selection" }, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn52", "evidence": [ { "id": "P32942", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P32942#ptm_processing" }, { "id": "15728350", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/15728350" }, { "id": "1T0P", "database": "PDB", "url": "https://www.rcsb.org/structure/1T0P" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P32942-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.41.41", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.72.72", "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": 4 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 3 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl", "icn3d_view.label", "icn3d_view.url" ] }, { "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", "icn3d_view.label", "icn3d_view.url" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 3 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl", "icn3d_view.label", "icn3d_view.url" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "P32942-1.84.84", "start_pos": 84, "end_pos": 84, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins.", "journal": "Nature biotechnology", "date": "2009", "authors": "Wollscheid B, Bausch-Fluck D, Henderson C, O'Brien R, Bibel M, Schiess R, Aebersold R, Watts JD", "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942#ptm_processing" }, { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "reference": [ { "type": "PubMed", "id": "19349973", "url": "https://glygen.org/publication/PubMed/19349973" } ] }, { "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": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19349973", "url": "https://glygen.org/publication/PubMed/19349973", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs367997761", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367997761", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs367997761", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367997761", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs367997761", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367997761#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs367997761", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367997761", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "ALETSLSKELVASGMGWAAF", "down_seq": "LSNVTGNSRILCSVYCNGSQ", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn84", "evidence": [ { "id": "P32942", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P32942#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "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": "rs367997761", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367997761" }, { "id": "rs367997761", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367997761" }, { "id": "rs367997761", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367997761#frequency_tab" }, { "id": "rs367997761", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367997761" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NLS->SLS); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10338774", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N84", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.87.87", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.101.101", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.103.103", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 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": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P32942-1.87.87", "start_pos": 87, "end_pos": 87, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins.", "journal": "Nature biotechnology", "date": "2009", "authors": "Wollscheid B, Bausch-Fluck D, Henderson C, O'Brien R, Bibel M, Schiess R, Aebersold R, Watts JD", "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942#ptm_processing" }, { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "reference": [ { "type": "PubMed", "id": "19349973", "url": "https://glygen.org/publication/PubMed/19349973" } ] }, { "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": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19349973", "url": "https://glygen.org/publication/PubMed/19349973", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs1195748984", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1195748984", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1195748984", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1195748984", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "TSLSKELVASGMGWAAFNLS", "down_seq": "VTGNSRILCSVYCNGSQITG", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn87", "evidence": [ { "id": "P32942", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P32942#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "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": "rs1195748984", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1195748984" }, { "id": "rs1195748984", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1195748984" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NVT->SVT); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10338765", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N87", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.101.101", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.107.107", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 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": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P32942-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structural study of N-linked oligosaccharides of human intercellular adhesion molecule-3 (CD50).", "journal": "Eur. J. Biochem.", "date": "2001", "authors": "Funatsu O, Sato T, Kotovuori P, Gahmberg CG, Ikekita M, Furukawa K", "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" }, { "database": "GlyConnect", "id": "286", "url": "https://glyconnect.expasy.org/browser/proteins/286" } ], "reference": [ { "type": "PubMed", "id": "11179968", "url": "https://glygen.org/publication/PubMed/11179968" } ] } ], "crossref": [ { "id": "11179968", "url": "https://glygen.org/publication/PubMed/11179968", "database": "PubMed", "categories": [ "Other" ] }, { "id": "286", "url": "https://glyconnect.expasy.org/browser/proteins/286", "database": "GlyConnect", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G10039CR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "evidence": [ { "id": "11179968", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11179968" }, { "id": "286", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/286" } ] }, { "glytoucan_ac": "G15433HJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "evidence": [ { "id": "11179968", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11179968" }, { "id": "286", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/286" } ] }, { "glytoucan_ac": "G17791VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "evidence": [ { "id": "11179968", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11179968" }, { "id": "286", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/286" } ] }, { "glytoucan_ac": "G19972YZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "evidence": [ { "id": "11179968", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11179968" }, { "id": "286", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/286" } ] }, { "glytoucan_ac": "G20425TQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "evidence": [ { "id": "11179968", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11179968" }, { "id": "286", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/286" } ] }, { "glytoucan_ac": "G31544HA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "evidence": [ { "id": "11179968", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11179968" }, { "id": "286", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/286" } ] }, { "glytoucan_ac": "G35324SL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "evidence": [ { "id": "11179968", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11179968" }, { "id": "286", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/286" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "evidence": [ { "id": "11179968", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11179968" }, { "id": "286", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/286" } ] }, { "glytoucan_ac": "G39308XN", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "evidence": [ { "id": "11179968", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11179968" }, { "id": "286", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/286" } ] }, { "glytoucan_ac": "G47012YE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "evidence": [ { "id": "11179968", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11179968" }, { "id": "286", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/286" } ] }, { "glytoucan_ac": "G49105NA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "evidence": [ { "id": "11179968", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11179968" }, { "id": "286", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/286" } ] }, { "glytoucan_ac": "G49197XP", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "evidence": [ { "id": "11179968", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11179968" }, { "id": "286", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/286" } ] }, { "glytoucan_ac": "G50783JY", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "evidence": [ { "id": "11179968", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11179968" }, { "id": "286", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/286" } ] }, { "glytoucan_ac": "G55661CO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "evidence": [ { "id": "11179968", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11179968" }, { "id": "286", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/286" } ] }, { "glytoucan_ac": "G66685IX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "evidence": [ { "id": "11179968", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11179968" }, { "id": "286", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/286" } ] }, { "glytoucan_ac": "G70757IC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "evidence": [ { "id": "11179968", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11179968" }, { "id": "286", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/286" } ] }, { "glytoucan_ac": "G70894RY", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "evidence": [ { "id": "11179968", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11179968" }, { "id": "286", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/286" } ] }, { "glytoucan_ac": "G71066WE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "evidence": [ { "id": "11179968", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11179968" }, { "id": "286", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/286" } ] }, { "glytoucan_ac": "G72797UR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "evidence": [ { "id": "11179968", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11179968" }, { "id": "286", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/286" } ] }, { "glytoucan_ac": "G74518AV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "evidence": [ { "id": "11179968", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11179968" }, { "id": "286", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/286" } ] }, { "glytoucan_ac": "G76055XW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "evidence": [ { "id": "11179968", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11179968" }, { "id": "286", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/286" } ] }, { "glytoucan_ac": "G77582RK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "evidence": [ { "id": "11179968", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11179968" }, { "id": "286", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/286" } ] }, { "glytoucan_ac": "G81266TW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "evidence": [ { "id": "11179968", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11179968" }, { "id": "286", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/286" } ] }, { "glytoucan_ac": "G86071XD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "evidence": [ { "id": "11179968", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11179968" }, { "id": "286", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/286" } ] }, { "glytoucan_ac": "G89186VO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "evidence": [ { "id": "11179968", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11179968" }, { "id": "286", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/286" } ] }, { "glytoucan_ac": "G90093AU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "evidence": [ { "id": "11179968", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11179968" }, { "id": "286", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/286" } ] }, { "glytoucan_ac": "G97007IY", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "evidence": [ { "id": "11179968", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11179968" }, { "id": "286", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/286" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "P32942-1.1.1", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.20.20", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 27 }, { "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": 27 }, { "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": 27 } ], "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": 27 }, { "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": 27 }, { "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": 27 } ], "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": "P32942-1.112.112", "start_pos": 112, "end_pos": 112, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P32942", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2145103752", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2145103752", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2145103752", "url": "https://www.ensembl.org/id/rs2145103752", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SRILCSVYCNGSQITGSSNI", "down_seq": "VYRLPERVELAPLPPWQPVG", "snv": [ { "evidence": [ { "id": "P32942", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 2 filters: n-glyco-sequon-loss (NIT->NIA); protein-of-interest(glycogene, lectin/i-type/non-siglec).", "chr_id": "19", "chr_pos": "10338691", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T112", "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" ] }, { "evidence": [ { "id": "rs2145103752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2145103752" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NIT->NII); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10338690", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T112", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2145103752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2145103752" }, { "id": "rs2145103752", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2145103752" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NIT->NIN); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10338690", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T112", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.101.101", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.110.110", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.132.132", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "P32942-1.136.136", "start_pos": 136, "end_pos": 136, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1055990311", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1055990311", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1055990311", "url": "https://www.ensembl.org/id/rs1055990311", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1599312678", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1599312678", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1599312678", "url": "https://www.ensembl.org/id/rs1599312678", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LPERVELAPLPPWQPVGQNF", "down_seq": "LRCQVEDGSPRTSLTVVLLR", "snv": [ { "evidence": [ { "id": "rs1055990311", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1055990311" }, { "id": "rs1055990311", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1055990311" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NFT->NFI); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335913", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T136", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1599312678", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1599312678" }, { "id": "rs1599312678", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1599312678" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NFT->NFP); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335914", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T136", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.134.134", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.149.149", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.151.151", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.152.152", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.156.156", "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": 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": "P32942-1.149.149", "start_pos": 149, "end_pos": 149, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs778546609", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778546609", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs778546609", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778546609", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs778546609", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778546609#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs778546609", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778546609", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P32942", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2040593043", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2040593043", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2040593043", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2040593043#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs2040593043", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2040593043", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QPVGQNFTLRCQVEDGSPRT", "down_seq": "LTVVLLRWEEELSRQPAVEE", "snv": [ { "evidence": [ { "id": "rs778546609", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778546609" }, { "id": "rs778546609", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778546609" }, { "id": "rs778546609", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778546609#frequency_tab" }, { "id": "rs778546609", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778546609" } ], "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 (SLT->NLT); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335874", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S149", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P32942", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942" }, { "id": "rs2040593043", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2040593043" }, { "id": "rs2040593043", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2040593043#frequency_tab" }, { "id": "rs2040593043", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2040593043" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/i-type/non-siglec).", "chr_id": "19", "chr_pos": "10335873", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S149", "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" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P32942-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.134.134", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.136.136", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.151.151", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.152.152", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.166.166", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.167.167", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.169.169", "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": 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": "P32942-1.207.207", "start_pos": 207, "end_pos": 207, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs956850507", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs956850507", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs956850507", "url": "https://www.ensembl.org/id/rs956850507", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs956850507", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs956850507", "database": "COSMIC", "categories": [ "Other" ] }, { "id": "rs998082364", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs998082364", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs998082364", "url": "https://www.ncbi.nlm.nih.gov/snp/rs998082364#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs998082364", "url": "http://gnomad.broadinstitute.org/awesome?query=rs998082364", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PFSCRTELDMQPQGLGLFVN", "down_seq": "SAPRQLRTFVLPVTPPRLVA", "snv": [ { "evidence": [ { "id": "rs956850507", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs956850507" }, { "id": "rs956850507", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs956850507" }, { "id": "rs956850507", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs956850507" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "P", "comment": "Somatic mutation passed 2 filters: n-glyco-sequon-loss (NTS->NPS); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335701", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T207", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs998082364", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs998082364" }, { "id": "rs998082364", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs998082364#frequency_tab" }, { "id": "rs998082364", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs998082364" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335700", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T207", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.189.189", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.190.190", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.191.191", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.205.205", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.206.206", "categories": [ "glycosylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.209.209", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.212.212", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.213.213", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.221.221", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.225.225", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.227.227", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "P32942-1.240.240", "start_pos": 240, "end_pos": 240, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P32942", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs752843833", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752843833", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs752843833", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752843833", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs752843833", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752843833#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs752843833", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752843833", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs781107671", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781107671", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs781107671", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781107671", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs781107671", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781107671", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs753485834", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753485834", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs753485834", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753485834#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs753485834", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753485834", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "VTPPRLVAPRFLEVETSWPV", "down_seq": "CTLDGLFPASEAQVYLALGD", "snv": [ { "evidence": [ { "id": "P32942", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 2 filters: n-glyco-sequon-gain (DCT->NCT); protein-of-interest(glycogene, lectin/i-type/non-siglec).", "chr_id": "19", "chr_pos": "10335285", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D240", "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": "rs752843833", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752843833" }, { "id": "rs752843833", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752843833" }, { "id": "rs752843833", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752843833#frequency_tab" }, { "id": "rs752843833", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752843833" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335284", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D240", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781107671", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781107671" }, { "id": "rs781107671", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781107671" }, { "id": "rs781107671", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781107671" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335283", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D240", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752843833", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752843833" }, { "id": "rs752843833", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752843833" }, { "id": "rs752843833", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752843833#frequency_tab" }, { "id": "rs752843833", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752843833" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335284", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D240", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753485834", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753485834" }, { "id": "rs753485834", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753485834#frequency_tab" }, { "id": "rs753485834", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753485834" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335285", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D240", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753485834", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753485834" }, { "id": "rs753485834", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753485834#frequency_tab" }, { "id": "rs753485834", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753485834" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335285", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D240", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.221.221", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.225.225", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.245.245", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.246.246", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.254.254", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.256.256", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.260.260", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 6 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "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": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P32942-1.266.266", "start_pos": 266, "end_pos": 266, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs374707916", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374707916", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs374707916", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374707916", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs374707916", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374707916#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs374707916", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374707916", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LFPASEAQVYLALGDQMLNA", "down_seq": "VMNHGDTLTATATATARADQ", "snv": [ { "evidence": [ { "id": "rs374707916", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374707916" }, { "id": "rs374707916", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374707916" }, { "id": "rs374707916", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374707916#frequency_tab" }, { "id": "rs374707916", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374707916" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NAT->NAI); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335206", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T266", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs374707916", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374707916" }, { "id": "rs374707916", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374707916" }, { "id": "rs374707916", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374707916#frequency_tab" }, { "id": "rs374707916", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374707916" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NAT->NAR); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335206", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T266", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.246.246", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.254.254", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.256.256", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.264.264", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.265.265", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.273.273", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.274.274", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.282.282", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.285.285", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "P32942-1.292.292", "start_pos": 292, "end_pos": 292, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs928243361", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs928243361", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs928243361", "url": "https://www.ensembl.org/id/rs928243361", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs143084546", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143084546", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs143084546", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs143084546", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs143084546", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143084546", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs143084546", "url": "https://www.ncbi.nlm.nih.gov/snp/rs143084546#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs143084546", "url": "http://gnomad.broadinstitute.org/awesome?query=rs143084546", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "DTLTATATATARADQEGARE", "down_seq": "VCNVTLGGERREARENLTVF", "snv": [ { "evidence": [ { "id": "rs928243361", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs928243361" }, { "id": "rs928243361", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs928243361" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (IVC->NVC); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335128", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I292", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs143084546", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143084546" }, { "id": "rs143084546", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs143084546" }, { "id": "rs143084546", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143084546" }, { "id": "rs143084546", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs143084546#frequency_tab" }, { "id": "rs143084546", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs143084546" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335129", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000588697", "site_lbl": "I292", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.273.273", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.274.274", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.282.282", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.295.295", "categories": [ "glycosylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.298.298", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.302.302", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.308.308", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.310.310", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "P32942-1.310.310", "start_pos": 310, "end_pos": 310, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs141585231", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141585231", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs141585231", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs141585231", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs141585231", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141585231", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs141585231", "url": "https://www.ncbi.nlm.nih.gov/snp/rs141585231#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs141585231", "url": "http://gnomad.broadinstitute.org/awesome?query=rs141585231", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs141585231", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs141585231", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "REIVCNVTLGGERREARENL", "down_seq": "VFSFLGPIVNLSEPTAHEGS", "snv": [ { "evidence": [ { "id": "rs141585231", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141585231" }, { "id": "rs141585231", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs141585231" }, { "id": "rs141585231", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141585231" }, { "id": "rs141585231", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs141585231#frequency_tab" }, { "id": "rs141585231", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs141585231" }, { "id": "rs141585231", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs141585231" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "K", "comment": "Somatic mutation passed 2 filters: n-glyco-sequon-loss (NLT->NLK); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335074", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000588697", "site_lbl": "T310", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs141585231", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141585231" }, { "id": "rs141585231", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs141585231" }, { "id": "rs141585231", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141585231" }, { "id": "rs141585231", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs141585231#frequency_tab" }, { "id": "rs141585231", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs141585231" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NLT->NLM); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335074", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000588697", "site_lbl": "T310", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.295.295", "categories": [ "glycosylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.298.298", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.302.302", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.308.308", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.320.320", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.329.329", "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": 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": "P32942-1.322.322", "start_pos": 322, "end_pos": 322, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs758037816", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758037816", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs758037816", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758037816", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs758037816", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758037816", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs749993573", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749993573", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs749993573", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749993573", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs749993573", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749993573", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RREARENLTVFSFLGPIVNL", "down_seq": "EPTAHEGSTVTVSCMAGARV", "snv": [ { "evidence": [ { "id": "rs758037816", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758037816" }, { "id": "rs758037816", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758037816" }, { "id": "rs758037816", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758037816" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NLS->NLG); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10334756", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S322", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749993573", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749993573" }, { "id": "rs749993573", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749993573" }, { "id": "rs749993573", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749993573" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NLS->NLN); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10334755", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S322", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.302.302", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.308.308", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.320.320", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.329.329", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.341.341", "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": 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": "P32942-1.333.333", "start_pos": 333, "end_pos": 333, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1357495172", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1357495172", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1357495172", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1357495172", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs774624550", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774624550", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs774624550", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774624550", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs774624550", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774624550#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs774624550", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774624550", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SFLGPIVNLSEPTAHEGSTV", "down_seq": "VSCMAGARVQVTLDGVPAAA", "snv": [ { "evidence": [ { "id": "rs1357495172", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1357495172" }, { "id": "rs1357495172", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1357495172" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (TVS->NVS); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10334722", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T333", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1357495172", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1357495172" }, { "id": "rs1357495172", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1357495172" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10334722", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T333", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774624550", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774624550" }, { "id": "rs774624550", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774624550" }, { "id": "rs774624550", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774624550#frequency_tab" }, { "id": "rs774624550", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774624550" } ], "glycoeffect": [], "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10334723", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T333", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.320.320", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.329.329", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.348.348", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.350.350", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.353.353", "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": 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": "P32942-1.376.376", "start_pos": 376, "end_pos": 376, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P32942", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs117942573", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs117942573", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs117942573", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs117942573", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs117942573", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs117942573", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs117942573", "url": "https://www.ncbi.nlm.nih.gov/snp/rs117942573#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs117942573", "url": "http://gnomad.broadinstitute.org/awesome?query=rs117942573", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QPAQLQLNATESDDGRSFFC", "down_seq": "ATLEVDGEFLHRNSSVQLRV", "snv": [ { "evidence": [ { "id": "P32942", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942" }, { "id": "rs117942573", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs117942573" }, { "id": "rs117942573", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs117942573" }, { "id": "rs117942573", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs117942573" }, { "id": "rs117942573", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs117942573#frequency_tab" }, { "id": "rs117942573", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs117942573" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 2 filters: n-glyco-sequon-gain (SAT->NAT); protein-of-interest(glycogene, lectin/i-type/non-siglec).", "chr_id": "19", "chr_pos": "10334593", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S376", "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": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P32942-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.363.363", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.370.370", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.389.389", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.392.392", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.396.396", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P32942-1.391.391", "start_pos": 391, "end_pos": 391, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs985256381", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs985256381", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs985256381", "url": "https://www.ncbi.nlm.nih.gov/snp/rs985256381#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs985256381", "url": "http://gnomad.broadinstitute.org/awesome?query=rs985256381", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs2040563673", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2040563673", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2040563673", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2040563673#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RSFFCSATLEVDGEFLHRNS", "down_seq": "VQLRVLYGPKIDRATCPQHL", "snv": [ { "evidence": [ { "id": "rs985256381", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs985256381" }, { "id": "rs985256381", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs985256381#frequency_tab" }, { "id": "rs985256381", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs985256381" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NSS->NSG); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10334549", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S391", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2040563673", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2040563673" }, { "id": "rs2040563673", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2040563673#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NSS->NSN); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10334548", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S391", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.389.389", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.392.392", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.396.396", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.397.397", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.398.398", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.400.400", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.402.402", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.405.405", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.409.409", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.410.410", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.411.411", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "P32942-1.415.415", "start_pos": 415, "end_pos": 415, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs761473419", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761473419", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs761473419", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761473419", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs761473419", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761473419#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs761473419", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761473419", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs189583530", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs189583530", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs189583530", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs189583530", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs189583530", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs189583530", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs189583530", "url": "https://www.ncbi.nlm.nih.gov/snp/rs189583530#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs189583530", "url": "http://gnomad.broadinstitute.org/awesome?query=rs189583530", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "RVLYGPKIDRATCPQHLKWK", "down_seq": "KTRHVLQCQARGNPYPELRC", "snv": [ { "evidence": [ { "id": "rs761473419", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761473419" }, { "id": "rs761473419", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761473419" }, { "id": "rs761473419", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761473419#frequency_tab" }, { "id": "rs761473419", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761473419" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DKT->NKT); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10334358", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D415", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs189583530", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs189583530" }, { "id": "rs189583530", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs189583530" }, { "id": "rs189583530", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs189583530" }, { "id": "rs189583530", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs189583530#frequency_tab" }, { "id": "rs189583530", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs189583530" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10334357", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "D415", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761473419", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761473419" }, { "id": "rs761473419", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761473419" }, { "id": "rs761473419", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761473419#frequency_tab" }, { "id": "rs761473419", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761473419" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10334358", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D415", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761473419", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761473419" }, { "id": "rs761473419", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761473419" }, { "id": "rs761473419", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761473419#frequency_tab" }, { "id": "rs761473419", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761473419" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10334358", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D415", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.396.396", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.397.397", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.398.398", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.400.400", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.402.402", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.405.405", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.409.409", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.410.410", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.411.411", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.412.412", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.413.413", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.416.416", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.417.417", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.418.418", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.420.420", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.421.421", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.423.423", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.425.425", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.427.427", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.428.428", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.429.429", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.430.430", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.431.431", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.432.432", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.434.434", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.435.435", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "P32942-1.455.455", "start_pos": 455, "end_pos": 455, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs966552136", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs966552136", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs966552136", "url": "https://www.ensembl.org/id/rs966552136", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1382881651", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1382881651", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1382881651", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1382881651#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1382881651", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1382881651", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "CLKEGSSREVPVGIPFFVNV", "down_seq": "HNGTYQCQASSSRGKYTLVV", "snv": [ { "evidence": [ { "id": "rs966552136", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs966552136" }, { "id": "rs966552136", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs966552136" } ], "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 (NVT->NVA); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10334238", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T455", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1382881651", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1382881651" }, { "id": "rs1382881651", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1382881651#frequency_tab" }, { "id": "rs1382881651", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1382881651" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NVT->NVI); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10334237", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T455", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.435.435", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.437.437", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.438.438", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.439.439", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.442.442", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.446.446", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.447.447", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.448.448", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.450.450", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.451.451", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.452.452", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.453.453", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.454.454", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.456.456", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.457.457", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.460.460", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.461.461", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.462.462", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.464.464", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.465.465", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.466.466", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.467.467", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.468.468", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.469.469", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.471.471", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.472.472", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.474.474", "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": 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": "P32942-1.516.516", "start_pos": 516, "end_pos": 516, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1259566670", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1259566670", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1259566670", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1259566670#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs765108324", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765108324", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs765108324", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765108324", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs765108324", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765108324#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs765108324", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765108324", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TLGVVTIVLALMYVFREHQR", "down_seq": "GSYHVREESTYLPLTSMQPT", "snv": [ { "evidence": [ { "id": "rs1259566670", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1259566670" }, { "id": "rs1259566670", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1259566670#frequency_tab" } ], "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 (SGS->NGS); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10333954", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S516", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765108324", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765108324" }, { "id": "rs765108324", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765108324" }, { "id": "rs765108324", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765108324#frequency_tab" }, { "id": "rs765108324", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765108324" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10333955", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S516", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P32942-1.498.498", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.499.499", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.501.501", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.502.502", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.503.503", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.505.505", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.507.507", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.508.508", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.509.509", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.513.513", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.515.515", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.517.517", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.518.518", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.519.519", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.520.520", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.521.521", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.524.524", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.525.525", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.533.533", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.535.535", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "P32942-1.54.54", "start_pos": 54, "end_pos": 54, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P32942", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LRVEPQNPVLSAGGSLFVNC", "down_seq": "TDCPSSEKIALETSLSKELV", "snv": [ { "evidence": [ { "id": "P32942", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "R", "comment": "Somatic mutation passed 2 filters: n-glyco-sequon-loss (NCS->NCR); protein-of-interest(glycogene, lectin/i-type/non-siglec).", "chr_id": "19", "chr_pos": "10338863", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S54", "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": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.41.41", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.52.52", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.72.72", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P32942-1.89.89", "start_pos": 89, "end_pos": 89, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1175617534", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1175617534", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1175617534", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1175617534", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LSKELVASGMGWAAFNLSNV", "down_seq": "GNSRILCSVYCNGSQITGSS", "snv": [ { "evidence": [ { "id": "rs1175617534", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1175617534" }, { "id": "rs1175617534", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1175617534" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NVT->NVN); glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10338759", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T89", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P32942-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.87.87", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.101.101", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.109.109", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P32942-1.100.100", "start_pos": 100, "end_pos": 100, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2040623620", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2040623620", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2040623620", "url": "https://www.ensembl.org/id/rs2040623620", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "WAAFNLSNVTGNSRILCSVY", "down_seq": "NGSQITGSSNITVYRLPERV", "snv": [ { "evidence": [ { "id": "rs2040623620", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2040623620" }, { "id": "rs2040623620", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2040623620" } ], "glycoeffect": [], "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10338726", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C100", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.87.87", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.101.101", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.110.110", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.120.120", "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": "P32942-1.102.102", "start_pos": 102, "end_pos": 102, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2512416382", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2512416382", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "AFNLSNVTGNSRILCSVYCN", "down_seq": "SQITGSSNITVYRLPERVEL", "snv": [ { "evidence": [ { "id": "rs2512416382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2512416382" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10338720", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G102", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P32942-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.87.87", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.101.101", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.110.110", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.122.122", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P32942-1.103.103", "start_pos": 103, "end_pos": 103, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P32942", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "FNLSNVTGNSRILCSVYCNG", "down_seq": "QITGSSNITVYRLPERVELA", "snv": [ { "evidence": [ { "id": "P32942", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/i-type/non-siglec).", "chr_id": "19", "chr_pos": "10338717", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S103", "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": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.87.87", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.101.101", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.110.110", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.123.123", "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": "P32942-1.105.105", "start_pos": 105, "end_pos": 105, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs147817956", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147817956", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs147817956", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147817956", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs147817956", "url": "https://www.ncbi.nlm.nih.gov/snp/rs147817956#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs147817956", "url": "http://gnomad.broadinstitute.org/awesome?query=rs147817956", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "LSNVTGNSRILCSVYCNGSQ", "down_seq": "TGSSNITVYRLPERVELAPL", "snv": [ { "evidence": [ { "id": "rs147817956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147817956" }, { "id": "rs147817956", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147817956" }, { "id": "rs147817956", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs147817956#frequency_tab" }, { "id": "rs147817956", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs147817956" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10338712", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I105", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P32942-1.87.87", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.101.101", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.110.110", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.124.124", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P32942-1.106.106", "start_pos": 106, "end_pos": 106, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs376533851", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376533851", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs376533851", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376533851", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs376533851", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376533851", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SNVTGNSRILCSVYCNGSQI", "down_seq": "GSSNITVYRLPERVELAPLP", "snv": [ { "evidence": [ { "id": "rs376533851", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376533851" }, { "id": "rs376533851", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376533851" }, { "id": "rs376533851", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376533851" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10338708", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T106", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376533851", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376533851" }, { "id": "rs376533851", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376533851" }, { "id": "rs376533851", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376533851" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10338708", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T106", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376533851", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376533851" }, { "id": "rs376533851", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376533851" }, { "id": "rs376533851", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376533851" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10338708", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T106", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P32942-1.87.87", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.101.101", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.110.110", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.126.126", "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": 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": "P32942-1.107.107", "start_pos": 107, "end_pos": 107, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs758065788", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758065788", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs758065788", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758065788", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs758065788", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758065788#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs758065788", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758065788", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "NVTGNSRILCSVYCNGSQIT", "down_seq": "SSNITVYRLPERVELAPLPP", "snv": [ { "evidence": [ { "id": "rs758065788", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758065788" }, { "id": "rs758065788", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758065788" }, { "id": "rs758065788", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758065788#frequency_tab" }, { "id": "rs758065788", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758065788" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10338705", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G107", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758065788", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758065788" }, { "id": "rs758065788", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758065788" }, { "id": "rs758065788", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758065788#frequency_tab" }, { "id": "rs758065788", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758065788" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10338705", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G107", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.87.87", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.101.101", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.110.110", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.126.126", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "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": "P32942-1.108.108", "start_pos": 108, "end_pos": 108, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1174103730", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1174103730", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1174103730", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1174103730", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P32942", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VTGNSRILCSVYCNGSQITG", "down_seq": "SNITVYRLPERVELAPLPPW", "snv": [ { "evidence": [ { "id": "rs1174103730", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1174103730" }, { "id": "rs1174103730", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1174103730" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10338702", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S108", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P32942", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/i-type/non-siglec).", "chr_id": "19", "chr_pos": "10338702", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S108", "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": "P32942", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/i-type/non-siglec).", "chr_id": "19", "chr_pos": "10338702", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S108", "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": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.101.101", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.110.110", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.128.128", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "P32942-1.109.109", "start_pos": 109, "end_pos": 109, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1363492895", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1363492895", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1363492895", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1363492895", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs749991919", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749991919", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs749991919", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749991919", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs749991919", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749991919", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TGNSRILCSVYCNGSQITGS", "down_seq": "NITVYRLPERVELAPLPPWQ", "snv": [ { "evidence": [ { "id": "rs1363492895", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1363492895" }, { "id": "rs1363492895", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1363492895" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10338699", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S109", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749991919", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749991919" }, { "id": "rs749991919", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749991919" }, { "id": "rs749991919", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749991919" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10338700", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S109", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.101.101", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.110.110", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.128.128", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "P32942-1.10.10", "start_pos": 10, "end_pos": 10, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P32942", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1299782790", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1299782790", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1299782790", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1299782790", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "MATMVPSVL", "down_seq": "PRACWTLLVCCLLTPGVQGQ", "snv": [ { "evidence": [ { "id": "P32942", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942" }, { "id": "rs1299782790", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1299782790" }, { "id": "rs1299782790", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1299782790" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/i-type/non-siglec).", "chr_id": "19", "chr_pos": "10339585", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "W10", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "P32942-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.1.1", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.30.30", "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": "P32942-1.113.113", "start_pos": 113, "end_pos": 113, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs748294276", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748294276", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748294276", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748294276", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748294276", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748294276#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs748294276", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748294276", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "RILCSVYCNGSQITGSSNIT", "down_seq": "YRLPERVELAPLPPWQPVGQ", "snv": [ { "evidence": [ { "id": "rs748294276", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748294276" }, { "id": "rs748294276", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748294276" }, { "id": "rs748294276", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748294276#frequency_tab" }, { "id": "rs748294276", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748294276" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10338688", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V113", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.101.101", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.110.110", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.132.132", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P32942-1.115.115", "start_pos": 115, "end_pos": 115, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P32942", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs7258015", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs7258015", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs7258015", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs7258015", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs7258015", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs7258015", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs7258015", "url": "https://www.ncbi.nlm.nih.gov/snp/rs7258015#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs7258015", "url": "http://gnomad.broadinstitute.org/awesome?query=rs7258015", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs7258015", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs7258015", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LCSVYCNGSQITGSSNITVY", "down_seq": "LPERVELAPLPPWQPVGQNF", "snv": [ { "evidence": [ { "id": "P32942", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942" }, { "id": "rs7258015", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs7258015" }, { "id": "rs7258015", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs7258015" }, { "id": "rs7258015", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs7258015" }, { "id": "rs7258015", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs7258015#frequency_tab" }, { "id": "rs7258015", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs7258015" }, { "id": "rs7258015", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs7258015" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/i-type/non-siglec).", "chr_id": "19", "chr_pos": "10338682", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "R115", "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": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.101.101", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.110.110", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.134.134", "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": "P32942-1.116.116", "start_pos": 116, "end_pos": 116, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2040595330", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2040595330", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2040595330", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2040595330#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "CSVYCNGSQITGSSNITVYR", "down_seq": "PERVELAPLPPWQPVGQNFT", "snv": [ { "evidence": [ { "id": "rs2040595330", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2040595330" }, { "id": "rs2040595330", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2040595330#frequency_tab" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335973", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L116", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.101.101", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.110.110", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.134.134", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.136.136", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P32942-1.117.117", "start_pos": 117, "end_pos": 117, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs752495746", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752495746", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs752495746", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752495746", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs752495746", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752495746#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs752495746", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752495746", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs752495746", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs752495746", "database": "COSMIC", "categories": [ "Other" ] }, { "id": "rs1371696710", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1371696710", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1371696710", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1371696710#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1371696710", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1371696710", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "SVYCNGSQITGSSNITVYRL", "down_seq": "ERVELAPLPPWQPVGQNFTL", "snv": [ { "evidence": [ { "id": "rs752495746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752495746" }, { "id": "rs752495746", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752495746" }, { "id": "rs752495746", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752495746#frequency_tab" }, { "id": "rs752495746", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752495746" }, { "id": "rs752495746", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs752495746" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335970", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P117", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs752495746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752495746" }, { "id": "rs752495746", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752495746" }, { "id": "rs752495746", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752495746#frequency_tab" }, { "id": "rs752495746", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752495746" }, { "id": "rs752495746", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs752495746" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335970", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P117", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1371696710", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1371696710" }, { "id": "rs1371696710", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1371696710#frequency_tab" }, { "id": "rs1371696710", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1371696710" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335971", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P117", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.101.101", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.110.110", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.134.134", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.136.136", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "P32942-1.118.118", "start_pos": 118, "end_pos": 118, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1599312813", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1599312813", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1599312813", "url": "https://www.ensembl.org/id/rs1599312813", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "P32942", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1312145033", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1312145033", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1312145033", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1312145033", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "VYCNGSQITGSSNITVYRLP", "down_seq": "RVELAPLPPWQPVGQNFTLR", "snv": [ { "evidence": [ { "id": "rs1599312813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1599312813" }, { "id": "rs1599312813", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1599312813" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335967", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E118", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P32942", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942" } ], "glycoeffect": [], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/i-type/non-siglec).", "chr_id": "19", "chr_pos": "10335968", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E118", "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": "rs1312145033", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1312145033" }, { "id": "rs1312145033", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1312145033" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335968", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E118", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.101.101", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.110.110", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.134.134", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.136.136", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.138.138", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "P32942-1.119.119", "start_pos": 119, "end_pos": 119, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P32942", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs933607035", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs933607035", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs933607035", "url": "https://www.ncbi.nlm.nih.gov/snp/rs933607035#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs933607035", "url": "http://gnomad.broadinstitute.org/awesome?query=rs933607035", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs933607035", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs933607035", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YCNGSQITGSSNITVYRLPE", "down_seq": "VELAPLPPWQPVGQNFTLRC", "snv": [ { "evidence": [ { "id": "P32942", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942" }, { "id": "rs933607035", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs933607035" }, { "id": "rs933607035", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs933607035#frequency_tab" }, { "id": "rs933607035", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs933607035" }, { "id": "rs933607035", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs933607035" } ], "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, lectin/i-type/non-siglec).", "chr_id": "19", "chr_pos": "10335965", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R119", "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" ] }, { "evidence": [ { "id": "P32942", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942" } ], "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, lectin/i-type/non-siglec).", "chr_id": "19", "chr_pos": "10335964", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R119", "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": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.101.101", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.110.110", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.134.134", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.136.136", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.139.139", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "P32942-1.11.11", "start_pos": 11, "end_pos": 11, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P32942", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2040635259", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2040635259", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2040635259", "url": "https://www.ensembl.org/id/rs2040635259", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "MATMVPSVLW", "down_seq": "RACWTLLVCCLLTPGVQGQE", "snv": [ { "evidence": [ { "id": "P32942", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/i-type/non-siglec).", "chr_id": "19", "chr_pos": "10339583", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P11", "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": "rs2040635259", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2040635259" }, { "id": "rs2040635259", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2040635259" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10339584", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P11", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "P32942-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.1.1", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.31.31", "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": 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": "P32942-1.120.120", "start_pos": 120, "end_pos": 120, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1568318193", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1568318193", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1568318193", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1568318193#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1568318193", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1568318193", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P32942", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1275112086", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1275112086", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1275112086", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1275112086#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "CNGSQITGSSNITVYRLPER", "down_seq": "ELAPLPPWQPVGQNFTLRCQ", "snv": [ { "evidence": [ { "id": "rs1568318193", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1568318193" }, { "id": "rs1568318193", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1568318193#frequency_tab" }, { "id": "rs1568318193", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1568318193" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335961", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V120", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P32942", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32942" }, { "id": "rs1275112086", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1275112086" }, { "id": "rs1275112086", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1275112086#frequency_tab" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/i-type/non-siglec).", "chr_id": "19", "chr_pos": "10335962", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V120", "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": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.101.101", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.110.110", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.134.134", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.136.136", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.140.140", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": "P32942-1.121.121", "start_pos": 121, "end_pos": 121, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1011666141", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1011666141", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1011666141", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1011666141#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1011666141", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1011666141", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs2145098714", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2145098714", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2145098714", "url": "https://www.ensembl.org/id/rs2145098714", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "NGSQITGSSNITVYRLPERV", "down_seq": "LAPLPPWQPVGQNFTLRCQV", "snv": [ { "evidence": [ { "id": "rs1011666141", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1011666141" }, { "id": "rs1011666141", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1011666141#frequency_tab" }, { "id": "rs1011666141", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1011666141" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335957", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E121", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2145098714", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2145098714" }, { "id": "rs2145098714", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2145098714" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335959", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E121", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.101.101", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.110.110", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.134.134", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.136.136", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.141.141", "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": 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": "P32942-1.122.122", "start_pos": 122, "end_pos": 122, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs759878024", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759878024", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs759878024", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759878024", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs759878024", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759878024#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs759878024", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759878024", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "GSQITGSSNITVYRLPERVE", "down_seq": "APLPPWQPVGQNFTLRCQVE", "snv": [ { "evidence": [ { "id": "rs759878024", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759878024" }, { "id": "rs759878024", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759878024" }, { "id": "rs759878024", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759878024#frequency_tab" }, { "id": "rs759878024", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759878024" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335955", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L122", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.110.110", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.134.134", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.136.136", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.141.141", "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": "P32942-1.123.123", "start_pos": 123, "end_pos": 123, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1273676766", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1273676766", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1273676766", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1273676766", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1273676766", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1273676766", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "SQITGSSNITVYRLPERVEL", "down_seq": "PLPPWQPVGQNFTLRCQVED", "snv": [ { "evidence": [ { "id": "rs1273676766", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1273676766" }, { "id": "rs1273676766", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1273676766" }, { "id": "rs1273676766", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1273676766" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335953", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A123", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.110.110", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P32942-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P32942-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P32942-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P32942-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P32942-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.134.134", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.136.136", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.143.143", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P32942-1.124.124", "start_pos": 124, "end_pos": 124, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1337431048", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1337431048", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1337431048", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1337431048", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs867834464", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867834464", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs867834464", "url": "http://gnomad.broadinstitute.org/awesome?query=rs867834464", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "QITGSSNITVYRLPERVELA", "down_seq": "LPPWQPVGQNFTLRCQVEDG", "snv": [ { "evidence": [ { "id": "rs1337431048", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1337431048" }, { "id": "rs1337431048", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1337431048" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335949", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P124", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs867834464", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867834464" }, { "id": "rs867834464", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs867834464" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335950", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P124", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P32942-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.110.110", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P32942-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.134.134", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.136.136", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P32942-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.143.143", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "P32942-1.126.126", "start_pos": 126, "end_pos": 126, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1327203455", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1327203455", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1327203455", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1327203455#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1327203455", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1327203455", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "TGSSNITVYRLPERVELAPL", "down_seq": "PWQPVGQNFTLRCQVEDGSP", "snv": [ { "evidence": [ { "id": "rs1327203455", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1327203455" }, { "id": "rs1327203455", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1327203455#frequency_tab" }, { "id": "rs1327203455", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1327203455" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335943", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P126", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.107.107", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P32942-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.110.110", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P32942-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P32942-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.134.134", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.136.136", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P32942-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.146.146", "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": "P32942-1.128.128", "start_pos": 128, "end_pos": 128, "uniprot_canonical_ac": "P32942-1", "length": 547, "uniprot_id": "ICAM3_HUMAN", "protein_name": "Intercellular adhesion molecule 3", "refseq_ac": "NP_002153", "refseq_name": "intercellular adhesion molecule 3 isoform 1 precursor", "gene_name": "ICAM3", "gene_names_uniprotkb": "ICAM3", "gene_names_refseq": "CD50; CDW50; ICAM-R; ICAM3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P32942", "url": "https://www.uniprot.org/uniprotkb/P32942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1599312737", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1599312737", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1599312737", "url": "https://www.ensembl.org/id/rs1599312737", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1438721536", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1438721536", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1438721536", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1438721536", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "SSNITVYRLPERVELAPLPP", "down_seq": "QPVGQNFTLRCQVEDGSPRT", "snv": [ { "evidence": [ { "id": "rs1599312737", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1599312737" }, { "id": "rs1599312737", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1599312737" } ], "glycoeffect": [], "sequence_org": "W", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335938", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W128", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1438721536", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1438721536" }, { "id": "rs1438721536", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1438721536" } ], "glycoeffect": [], "sequence_org": "W", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "19", "chr_pos": "10335937", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W128", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "snv", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "415", "end_pos": "415" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "457", "end_pos": "457" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "107", "end_pos": "107" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "132", "end_pos": "132" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "1", "end_pos": "1" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "400", "end_pos": "400" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "420", "end_pos": "420" }, { "start_pos": "421", "end_pos": "421" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "430", "end_pos": "430" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "469", "end_pos": "469" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "480", "end_pos": "480" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "499", "end_pos": "499" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "508", "end_pos": "508" }, { "start_pos": "509", "end_pos": "509" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "518", "end_pos": "518" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "542", "end_pos": "542" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "518", "end_pos": "518" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P32942-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P32942-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P32942-1.110.110", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P32942-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P32942-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P32942-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P32942-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P32942-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P32942-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P32942-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P32942-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P32942-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P32942-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P32942-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P32942-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P32942-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P32942-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P32942-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P32942-1.134.134", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P32942-1.136.136", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P32942-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P32942-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P32942-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P32942-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P32942-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P32942-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P32942-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P32942-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P32942-1.148.148", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": [] } ] } ]